Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans
- Author
- ZELANTE, L1 ; GASPARINI, P1 ; MANSFIELD, E6 ; DELGROSSO, K7 ; RAPPAPORT, E8 ; SURREY, S7 ; FORTINA, P8 9 ; ESTIVILL, X2 ; MELCHIONDA, S1 ; D'AGRUMA, L1 ; GOVEA, N3 ; MILA, M3 ; DELLA MONICA, M4 ; LUTFI, J4 ; SHOHAT, M5
[1] Servizio di Genetica Medica, IRCCS Ospedale Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy
[2] Department de Genetica, Centre de Genetica Medica i Molecular-IRO, l'Hospitalet, Barcelona, Spain
[3] Servei de Genetica, Hospital Clinic, Barcelona, Spain
[4] Servizio di Genetica Medica, Ospedale 'G.Moscati', Avellino, Italy
[5] Department of Genetics, Children's Medical Center of Israel, Beilinson Medical Campus, Petah-Tiqva, Israel
[6] Molecular Dynamics, Sunnyvale, CA, United States
[7] Department of Pediatrics, Jefferson Medical College and the duPont Hospital for Children, Wilmington, DE, United States
[8] Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA, United States
[9] The Children's Hospital of Philadelphia, Philadelphia, PA, United States - Source
Human molecular genetics (Print). 1997, Vol 6, Num 9, pp 1605-1609 ; ref : 23 ref
- Publisher
- Oxford University Press, Oxford
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Connexine Diagnostic Gène Génétique Homme Jonction communicante Mutation Surdité Maladie héréditaire ORL pathologie Trouble audition
- Keyword (en)
- Connexin Diagnosis Gene Genetics Human Gap junction Mutation Hearing loss Genetic disease ENT disease Auditory disorder
- Keyword (es)
- Connexina Diagnóstico Gen Genética Hombre Unión comunicante Mutación Sordera Enfermedad hereditaria ORL patología Trastorno auditivo
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B10 Otorhinolaryngology. Stomatology / 002B10D Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology / 002B10D02 Non tumoral diseases
- Discipline
- Otorhinolaryngology. Stomatology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 2790407
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
Access to the document
Install on your browser
DOI
10.1093/hmg/6.9.1605 
https://dx.doi.org/10.1093/hmg/6.9.1605
"O:13:\"PanistOpenUrl\":36:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000idc\";N;s:6:\"\u0000*\u0000fmt\";s:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:20:\"10.1093\/hmg\/6.9.1605\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:142:\"Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans\";s:9:\"\u0000*\u0000jtitle\";s:32:\"Human molecular genetics (Print)\";s:9:\"\u0000*\u0000stitle\";s:24:\"Hum. mol. genet. (Print)\";s:7:\"\u0000*\u0000date\";s:4:\"1997\";s:9:\"\u0000*\u0000volume\";s:1:\"6\";s:8:\"\u0000*\u0000issue\";s:1:\"9\";s:8:\"\u0000*\u0000spage\";s:4:\"1605\";s:8:\"\u0000*\u0000epage\";s:4:\"1609\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0964-6906\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:7:\"ZELANTE\";s:10:\"\u0000*\u0000aufirst\";s:1:\"L\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:14:{i:0;s:12:\"GASPARINI, P\";i:1;s:12:\"MANSFIELD, E\";i:2;s:12:\"DELGROSSO, K\";i:3;s:12:\"RAPPAPORT, E\";i:4;s:9:\"SURREY, S\";i:5;s:10:\"FORTINA, P\";i:6;s:11:\"ESTIVILL, X\";i:7;s:13:\"MELCHIONDA, S\";i:8;s:11:\"D'AGRUMA, L\";i:9;s:8:\"GOVEA, N\";i:10;s:7:\"MILA, M\";i:11;s:15:\"DELLA MONICA, M\";i:12;s:8:\"LUTFI, J\";i:13;s:9:\"SHOHAT, M\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:0:\"\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:142:\"Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans\";s:8:\"\u0000*\u0000place\";s:6:\"Oxford\";s:6:\"\u0000*\u0000pub\";s:23:\"Oxford University Press\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:0:\"\";s:9:\"\u0000*\u0000series\";s:0:\"\";s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";b:1;}"
Panist access
"O:12:\"IstexOpenUrl\":35:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000fmt\";s:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:20:\"10.1093\/hmg\/6.9.1605\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:142:\"Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans\";s:9:\"\u0000*\u0000jtitle\";s:32:\"Human molecular genetics (Print)\";s:9:\"\u0000*\u0000stitle\";s:24:\"Hum. mol. genet. (Print)\";s:7:\"\u0000*\u0000date\";s:4:\"1997\";s:9:\"\u0000*\u0000volume\";s:1:\"6\";s:8:\"\u0000*\u0000issue\";s:1:\"9\";s:8:\"\u0000*\u0000spage\";s:4:\"1605\";s:8:\"\u0000*\u0000epage\";s:4:\"1609\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0964-6906\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:7:\"ZELANTE\";s:10:\"\u0000*\u0000aufirst\";s:1:\"L\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:14:{i:0;s:12:\"GASPARINI, P\";i:1;s:12:\"MANSFIELD, E\";i:2;s:12:\"DELGROSSO, K\";i:3;s:12:\"RAPPAPORT, E\";i:4;s:9:\"SURREY, S\";i:5;s:10:\"FORTINA, P\";i:6;s:11:\"ESTIVILL, X\";i:7;s:13:\"MELCHIONDA, S\";i:8;s:11:\"D'AGRUMA, L\";i:9;s:8:\"GOVEA, N\";i:10;s:7:\"MILA, M\";i:11;s:15:\"DELLA MONICA, M\";i:12;s:8:\"LUTFI, J\";i:13;s:9:\"SHOHAT, M\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:0:\"\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:142:\"Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans\";s:8:\"\u0000*\u0000place\";s:6:\"Oxford\";s:6:\"\u0000*\u0000pub\";s:23:\"Oxford University Press\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:0:\"\";s:9:\"\u0000*\u0000series\";s:0:\"\";s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";b:1;}"
Istex access
"O:16:\"UnpaywallOpenUrl\":35:{s:8:\"\u0000*\u0000email\";s:27:\"assistance-portail@inist.fr\";s:6:\"\u0000*\u0000fmt\";N;s:6:\"\u0000*\u0000doi\";s:20:\"10.1093\/hmg\/6.9.1605\";s:6:\"\u0000*\u0000pii\";N;s:7:\"\u0000*\u0000pmid\";N;s:9:\"\u0000*\u0000atitle\";N;s:9:\"\u0000*\u0000jtitle\";N;s:9:\"\u0000*\u0000stitle\";N;s:7:\"\u0000*\u0000date\";N;s:9:\"\u0000*\u0000volume\";N;s:8:\"\u0000*\u0000issue\";N;s:8:\"\u0000*\u0000spage\";N;s:8:\"\u0000*\u0000epage\";N;s:8:\"\u0000*\u0000pages\";N;s:7:\"\u0000*\u0000issn\";N;s:8:\"\u0000*\u0000eissn\";N;s:9:\"\u0000*\u0000aulast\";N;s:10:\"\u0000*\u0000aufirst\";N;s:9:\"\u0000*\u0000auinit\";N;s:10:\"\u0000*\u0000auinitm\";N;s:5:\"\u0000*\u0000au\";N;s:9:\"\u0000*\u0000aucorp\";N;s:7:\"\u0000*\u0000isbn\";N;s:8:\"\u0000*\u0000coden\";N;s:8:\"\u0000*\u0000genre\";N;s:7:\"\u0000*\u0000part\";N;s:9:\"\u0000*\u0000btitle\";N;s:8:\"\u0000*\u0000title\";N;s:8:\"\u0000*\u0000place\";N;s:6:\"\u0000*\u0000pub\";N;s:10:\"\u0000*\u0000edition\";N;s:9:\"\u0000*\u0000tpages\";N;s:9:\"\u0000*\u0000series\";N;s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";N;}"
Unpaywall access
"O:16:\"EuropePMCOpenUrl\":35:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000fmt\";s:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:20:\"10.1093\/hmg\/6.9.1605\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:142:\"Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans\";s:9:\"\u0000*\u0000jtitle\";s:32:\"Human molecular genetics (Print)\";s:9:\"\u0000*\u0000stitle\";s:24:\"Hum. mol. genet. (Print)\";s:7:\"\u0000*\u0000date\";s:4:\"1997\";s:9:\"\u0000*\u0000volume\";s:1:\"6\";s:8:\"\u0000*\u0000issue\";s:1:\"9\";s:8:\"\u0000*\u0000spage\";s:4:\"1605\";s:8:\"\u0000*\u0000epage\";s:4:\"1609\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0964-6906\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:7:\"ZELANTE\";s:10:\"\u0000*\u0000aufirst\";s:1:\"L\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:14:{i:0;s:12:\"GASPARINI, P\";i:1;s:12:\"MANSFIELD, E\";i:2;s:12:\"DELGROSSO, K\";i:3;s:12:\"RAPPAPORT, E\";i:4;s:9:\"SURREY, S\";i:5;s:10:\"FORTINA, P\";i:6;s:11:\"ESTIVILL, X\";i:7;s:13:\"MELCHIONDA, S\";i:8;s:11:\"D'AGRUMA, L\";i:9;s:8:\"GOVEA, N\";i:10;s:7:\"MILA, M\";i:11;s:15:\"DELLA MONICA, M\";i:12;s:8:\"LUTFI, J\";i:13;s:9:\"SHOHAT, M\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:0:\"\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:142:\"Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans\";s:8:\"\u0000*\u0000place\";s:6:\"Oxford\";s:6:\"\u0000*\u0000pub\";s:23:\"Oxford University Press\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:0:\"\";s:9:\"\u0000*\u0000series\";s:0:\"\";s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";b:1;}"
Europe PubMed Central access
"O:11:\"BaseOpenUrl\":35:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000fmt\";s:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:20:\"10.1093\/hmg\/6.9.1605\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:142:\"Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans\";s:9:\"\u0000*\u0000jtitle\";s:32:\"Human molecular genetics (Print)\";s:9:\"\u0000*\u0000stitle\";s:24:\"Hum. mol. genet. (Print)\";s:7:\"\u0000*\u0000date\";s:4:\"1997\";s:9:\"\u0000*\u0000volume\";s:1:\"6\";s:8:\"\u0000*\u0000issue\";s:1:\"9\";s:8:\"\u0000*\u0000spage\";s:4:\"1605\";s:8:\"\u0000*\u0000epage\";s:4:\"1609\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0964-6906\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:7:\"ZELANTE\";s:10:\"\u0000*\u0000aufirst\";s:1:\"L\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:14:{i:0;s:12:\"GASPARINI, P\";i:1;s:12:\"MANSFIELD, E\";i:2;s:12:\"DELGROSSO, K\";i:3;s:12:\"RAPPAPORT, E\";i:4;s:9:\"SURREY, S\";i:5;s:10:\"FORTINA, P\";i:6;s:11:\"ESTIVILL, X\";i:7;s:13:\"MELCHIONDA, S\";i:8;s:11:\"D'AGRUMA, L\";i:9;s:8:\"GOVEA, N\";i:10;s:7:\"MILA, M\";i:11;s:15:\"DELLA MONICA, M\";i:12;s:8:\"LUTFI, J\";i:13;s:9:\"SHOHAT, M\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:0:\"\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:142:\"Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans\";s:8:\"\u0000*\u0000place\";s:6:\"Oxford\";s:6:\"\u0000*\u0000pub\";s:23:\"Oxford University Press\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:0:\"\";s:9:\"\u0000*\u0000series\";s:0:\"\";s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";b:1;}"
Base Search access
"O:12:\"ArXivOpenUrl\":35:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000fmt\";s:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:20:\"10.1093\/hmg\/6.9.1605\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:142:\"Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans\";s:9:\"\u0000*\u0000jtitle\";s:32:\"Human molecular genetics (Print)\";s:9:\"\u0000*\u0000stitle\";s:24:\"Hum. mol. genet. (Print)\";s:7:\"\u0000*\u0000date\";s:4:\"1997\";s:9:\"\u0000*\u0000volume\";s:1:\"6\";s:8:\"\u0000*\u0000issue\";s:1:\"9\";s:8:\"\u0000*\u0000spage\";s:4:\"1605\";s:8:\"\u0000*\u0000epage\";s:4:\"1609\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0964-6906\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:7:\"ZELANTE\";s:10:\"\u0000*\u0000aufirst\";s:1:\"L\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:14:{i:0;s:12:\"GASPARINI, P\";i:1;s:12:\"MANSFIELD, E\";i:2;s:12:\"DELGROSSO, K\";i:3;s:12:\"RAPPAPORT, E\";i:4;s:9:\"SURREY, S\";i:5;s:10:\"FORTINA, P\";i:6;s:11:\"ESTIVILL, X\";i:7;s:13:\"MELCHIONDA, S\";i:8;s:11:\"D'AGRUMA, L\";i:9;s:8:\"GOVEA, N\";i:10;s:7:\"MILA, M\";i:11;s:15:\"DELLA MONICA, M\";i:12;s:8:\"LUTFI, J\";i:13;s:9:\"SHOHAT, M\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:0:\"\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:142:\"Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans\";s:8:\"\u0000*\u0000place\";s:6:\"Oxford\";s:6:\"\u0000*\u0000pub\";s:23:\"Oxford University Press\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:0:\"\";s:9:\"\u0000*\u0000series\";s:0:\"\";s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";b:1;}"
arXiv access
