Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein
- Author
- STROM, T. M1 ; HÖRTNAGEL, K1 ; HOFMANN, S1 2 ; GEKELER, F1 3 ; SCHARFE, C1 ; RABL, W4 ; GERBITZ, K. D2 5 ; MEITINGER, T1
[1] Abteilung Medizinische Genetik, Klinikum Innenstadt, Ludwig-Maximilians-Universität, Goethestrasse 29, 80336 München, Germany
[2] Diabetesforschung, Akademisches Lehrkrankenhaus München-Schwabing, 80804 München, Germany
[3] Neurologische Klinik, Klinikum Grosshadern, Ludwig-Maximilians-Universität, 81377 München, Germany
[4] Kinderklinik, Akademisches Lehrkrankenhaus München-Schwabing, 80804 München, Germany
[5] Institute für Klinische Chemie, Akademisches Lehrkrankenhaus München-Schwabing, 80804 München, Germany - Source
Human molecular genetics (Print). 1998, Vol 7, Num 13, pp 2021-2028 ; ref : 23 ref
- Publisher
- Oxford University Press, Oxford
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Carte génétique Carte physique Chromosome B4 Expression génique Gène Homme Homologie Mutation Protéine transmembranaire Séquence nucléotide Wolfram syndrome Wolframine Endocrinopathie Nerf crânien pathologie ORL pathologie Oeil pathologie Système nerveux pathologie Trouble audition
- Keyword (en)
- Genetic mapping Physical map Chromosome B4 Gene expression Gene Human Homology Mutation Transmembrane protein Nucleotide sequence Wolfram syndrome Endocrinopathy Cranial nerve disease ENT disease Eye disease Nervous system diseases Auditory disorder
- Keyword (es)
- Mapa genético Mapa físico Cromosoma B4 Expresión genética Gen Hombre Homología Mutación Proteína transmembranar Secuencia nucleótido Endocrinopatía Nervio craneal patología ORL patología Ojo patología Sistema nervioso patología Trastorno auditivo
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23E Complex syndromes
- Discipline
- Medical genetics
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 1648000
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/7.13.2021 
https://dx.doi.org/10.1093/hmg/7.13.2021
"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\/7.13.2021\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:168:\"Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein\";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:\"1998\";s:9:\"\u0000*\u0000volume\";s:1:\"7\";s:8:\"\u0000*\u0000issue\";s:2:\"13\";s:8:\"\u0000*\u0000spage\";s:4:\"2021\";s:8:\"\u0000*\u0000epage\";s:4:\"2028\";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:5:\"STROM\";s:10:\"\u0000*\u0000aufirst\";s:4:\"T. M\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:7:{i:0;s:13:\"H\u00d6RTNAGEL, K\";i:1;s:10:\"HOFMANN, S\";i:2;s:10:\"GEKELER, F\";i:3;s:10:\"SCHARFE, C\";i:4;s:7:\"RABL, W\";i:5;s:13:\"GERBITZ, K. D\";i:6;s:12:\"MEITINGER, T\";}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:168:\"Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein\";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\/7.13.2021\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:168:\"Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein\";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:\"1998\";s:9:\"\u0000*\u0000volume\";s:1:\"7\";s:8:\"\u0000*\u0000issue\";s:2:\"13\";s:8:\"\u0000*\u0000spage\";s:4:\"2021\";s:8:\"\u0000*\u0000epage\";s:4:\"2028\";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:5:\"STROM\";s:10:\"\u0000*\u0000aufirst\";s:4:\"T. M\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:7:{i:0;s:13:\"H\u00d6RTNAGEL, K\";i:1;s:10:\"HOFMANN, S\";i:2;s:10:\"GEKELER, F\";i:3;s:10:\"SCHARFE, C\";i:4;s:7:\"RABL, W\";i:5;s:13:\"GERBITZ, K. D\";i:6;s:12:\"MEITINGER, T\";}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:168:\"Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein\";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\/7.13.2021\";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\/7.13.2021\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:168:\"Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein\";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:\"1998\";s:9:\"\u0000*\u0000volume\";s:1:\"7\";s:8:\"\u0000*\u0000issue\";s:2:\"13\";s:8:\"\u0000*\u0000spage\";s:4:\"2021\";s:8:\"\u0000*\u0000epage\";s:4:\"2028\";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:5:\"STROM\";s:10:\"\u0000*\u0000aufirst\";s:4:\"T. M\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:7:{i:0;s:13:\"H\u00d6RTNAGEL, K\";i:1;s:10:\"HOFMANN, S\";i:2;s:10:\"GEKELER, F\";i:3;s:10:\"SCHARFE, C\";i:4;s:7:\"RABL, W\";i:5;s:13:\"GERBITZ, K. D\";i:6;s:12:\"MEITINGER, T\";}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:168:\"Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein\";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\/7.13.2021\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:168:\"Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein\";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:\"1998\";s:9:\"\u0000*\u0000volume\";s:1:\"7\";s:8:\"\u0000*\u0000issue\";s:2:\"13\";s:8:\"\u0000*\u0000spage\";s:4:\"2021\";s:8:\"\u0000*\u0000epage\";s:4:\"2028\";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:5:\"STROM\";s:10:\"\u0000*\u0000aufirst\";s:4:\"T. M\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:7:{i:0;s:13:\"H\u00d6RTNAGEL, K\";i:1;s:10:\"HOFMANN, S\";i:2;s:10:\"GEKELER, F\";i:3;s:10:\"SCHARFE, C\";i:4;s:7:\"RABL, W\";i:5;s:13:\"GERBITZ, K. D\";i:6;s:12:\"MEITINGER, T\";}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:168:\"Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein\";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\/7.13.2021\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:168:\"Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein\";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:\"1998\";s:9:\"\u0000*\u0000volume\";s:1:\"7\";s:8:\"\u0000*\u0000issue\";s:2:\"13\";s:8:\"\u0000*\u0000spage\";s:4:\"2021\";s:8:\"\u0000*\u0000epage\";s:4:\"2028\";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:5:\"STROM\";s:10:\"\u0000*\u0000aufirst\";s:4:\"T. M\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:7:{i:0;s:13:\"H\u00d6RTNAGEL, K\";i:1;s:10:\"HOFMANN, S\";i:2;s:10:\"GEKELER, F\";i:3;s:10:\"SCHARFE, C\";i:4;s:7:\"RABL, W\";i:5;s:13:\"GERBITZ, K. D\";i:6;s:12:\"MEITINGER, T\";}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:168:\"Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein\";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
