Genomic screening for β-sarcoglycan gene mutations : missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E)
- Author
- BÖNNEMANN, C. G1 2 ; PASSOS-BUENO, M. R; KUNKEL, L. M1 ; MCNALLY, E. M1 ; VAINZOF, M2 ; DE SA MOREIRA, E; MARIE, S. K3 ; PAVANELLO, R. C. M; NOGUCHI, S4 ; OZAWA, E4 ; ZATZ, M
[1] Howard Hughes Medical Institute and Division of Genetics, Children's Hospital, and Harvard Medical School, Boston, MA 02115, United States
[2] Department of Neurology, Children's Hospital, and Harvard Medical School, Boston, MA 02115, United States
[3] Departamento de Biologia, Instituto de Biociências, Universidade de São Paulo, CEP 05508-900 São Paulo, Brazil
[4] National Institute of Neuroscience, Kodaira, Tokyo 187, Japan - Source
Human molecular genetics (Print). 1996, Vol 5, Num 12, pp 1953-1961 ; ref : 45 ref
- Publisher
- Oxford University Press, Oxford
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Dystrophie musculaire progressive ceintures Grave Génétique Homme Mutation faux sens Organisation gène Produit gène Structure domaine Sarcoglycane Maladie héréditaire Neuromusculaire pathologie Système nerveux pathologie
- Keyword (en)
- Limb girdle muscular dystrophy Severe Genetics Human Missense mutation Gene organization Gene product Domain structure Genetic disease Neuromuscular diseases Nervous system diseases
- Keyword (es)
- Distrofia muscular progresiva cinturones Grave Genética Hombre Mutación falso sentido Organización gene Producto gene Estructura dominio Enfermedad hereditaria Neuromuscular patología Sistema nervioso patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B17 Neurology / 002B17H Diseases of striated muscles. Neuromuscular diseases
- Discipline
- Neurology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 2501158
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/5.12.1953 
https://dx.doi.org/10.1093/hmg/5.12.1953
"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:21:\"10.1093\/hmg\/5.12.1953\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:138:\"Genomic screening for \u03b2-sarcoglycan gene mutations : missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E)\";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:\"1996\";s:9:\"\u0000*\u0000volume\";s:1:\"5\";s:8:\"\u0000*\u0000issue\";s:2:\"12\";s:8:\"\u0000*\u0000spage\";s:4:\"1953\";s:8:\"\u0000*\u0000epage\";s:4:\"1961\";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:10:\"B\u00d6NNEMANN\";s:10:\"\u0000*\u0000aufirst\";s:4:\"C. G\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:10:{i:0;s:18:\"PASSOS-BUENO, M. R\";i:1;s:12:\"KUNKEL, L. M\";i:2;s:13:\"MCNALLY, E. M\";i:3;s:10:\"VAINZOF, M\";i:4;s:16:\"DE SA MOREIRA, E\";i:5;s:11:\"MARIE, S. K\";i:6;s:18:\"PAVANELLO, R. C. M\";i:7;s:10:\"NOGUCHI, S\";i:8;s:8:\"OZAWA, E\";i:9;s:7:\"ZATZ, 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:138:\"Genomic screening for \u03b2-sarcoglycan gene mutations : missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E)\";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:21:\"10.1093\/hmg\/5.12.1953\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:138:\"Genomic screening for \u03b2-sarcoglycan gene mutations : missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E)\";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:\"1996\";s:9:\"\u0000*\u0000volume\";s:1:\"5\";s:8:\"\u0000*\u0000issue\";s:2:\"12\";s:8:\"\u0000*\u0000spage\";s:4:\"1953\";s:8:\"\u0000*\u0000epage\";s:4:\"1961\";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:10:\"B\u00d6NNEMANN\";s:10:\"\u0000*\u0000aufirst\";s:4:\"C. G\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:10:{i:0;s:18:\"PASSOS-BUENO, M. R\";i:1;s:12:\"KUNKEL, L. M\";i:2;s:13:\"MCNALLY, E. M\";i:3;s:10:\"VAINZOF, M\";i:4;s:16:\"DE SA MOREIRA, E\";i:5;s:11:\"MARIE, S. K\";i:6;s:18:\"PAVANELLO, R. C. M\";i:7;s:10:\"NOGUCHI, S\";i:8;s:8:\"OZAWA, E\";i:9;s:7:\"ZATZ, 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:138:\"Genomic screening for \u03b2-sarcoglycan gene mutations : missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E)\";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:21:\"10.1093\/hmg\/5.12.1953\";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:21:\"10.1093\/hmg\/5.12.1953\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:138:\"Genomic screening for \u03b2-sarcoglycan gene mutations : missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E)\";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:\"1996\";s:9:\"\u0000*\u0000volume\";s:1:\"5\";s:8:\"\u0000*\u0000issue\";s:2:\"12\";s:8:\"\u0000*\u0000spage\";s:4:\"1953\";s:8:\"\u0000*\u0000epage\";s:4:\"1961\";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:10:\"B\u00d6NNEMANN\";s:10:\"\u0000*\u0000aufirst\";s:4:\"C. G\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:10:{i:0;s:18:\"PASSOS-BUENO, M. R\";i:1;s:12:\"KUNKEL, L. M\";i:2;s:13:\"MCNALLY, E. M\";i:3;s:10:\"VAINZOF, M\";i:4;s:16:\"DE SA MOREIRA, E\";i:5;s:11:\"MARIE, S. K\";i:6;s:18:\"PAVANELLO, R. C. M\";i:7;s:10:\"NOGUCHI, S\";i:8;s:8:\"OZAWA, E\";i:9;s:7:\"ZATZ, 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:138:\"Genomic screening for \u03b2-sarcoglycan gene mutations : missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E)\";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:21:\"10.1093\/hmg\/5.12.1953\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:138:\"Genomic screening for \u03b2-sarcoglycan gene mutations : missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E)\";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:\"1996\";s:9:\"\u0000*\u0000volume\";s:1:\"5\";s:8:\"\u0000*\u0000issue\";s:2:\"12\";s:8:\"\u0000*\u0000spage\";s:4:\"1953\";s:8:\"\u0000*\u0000epage\";s:4:\"1961\";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:10:\"B\u00d6NNEMANN\";s:10:\"\u0000*\u0000aufirst\";s:4:\"C. G\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:10:{i:0;s:18:\"PASSOS-BUENO, M. R\";i:1;s:12:\"KUNKEL, L. M\";i:2;s:13:\"MCNALLY, E. M\";i:3;s:10:\"VAINZOF, M\";i:4;s:16:\"DE SA MOREIRA, E\";i:5;s:11:\"MARIE, S. K\";i:6;s:18:\"PAVANELLO, R. C. M\";i:7;s:10:\"NOGUCHI, S\";i:8;s:8:\"OZAWA, E\";i:9;s:7:\"ZATZ, 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:138:\"Genomic screening for \u03b2-sarcoglycan gene mutations : missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E)\";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:21:\"10.1093\/hmg\/5.12.1953\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:138:\"Genomic screening for \u03b2-sarcoglycan gene mutations : missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E)\";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:\"1996\";s:9:\"\u0000*\u0000volume\";s:1:\"5\";s:8:\"\u0000*\u0000issue\";s:2:\"12\";s:8:\"\u0000*\u0000spage\";s:4:\"1953\";s:8:\"\u0000*\u0000epage\";s:4:\"1961\";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:10:\"B\u00d6NNEMANN\";s:10:\"\u0000*\u0000aufirst\";s:4:\"C. G\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:10:{i:0;s:18:\"PASSOS-BUENO, M. R\";i:1;s:12:\"KUNKEL, L. M\";i:2;s:13:\"MCNALLY, E. M\";i:3;s:10:\"VAINZOF, M\";i:4;s:16:\"DE SA MOREIRA, E\";i:5;s:11:\"MARIE, S. K\";i:6;s:18:\"PAVANELLO, R. C. M\";i:7;s:10:\"NOGUCHI, S\";i:8;s:8:\"OZAWA, E\";i:9;s:7:\"ZATZ, 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:138:\"Genomic screening for \u03b2-sarcoglycan gene mutations : missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E)\";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
