A Cys138-to-Arg subsitution in the GM2 activator protein is associated with the AB variant form of GM2 gangliosidosis
- Author
- BEI XIE; WEI WANG; MAHURAN, D. J
Univ. Toronto, hosp. sick children, res. inst., Toronto ON M5G 1X8, Canada - Source
American journal of human genetics. 1992, Vol 50, Num 5, pp 1046-1052 ; ref : 1/2 p
- Publisher
- University of Chicago Press, Chicago, IL
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Biologie moléculaire Exploration Forme clinique Homme Lipide Maladie héréditaire Mutation Métabolisme pathologie Méthode Northern Méthode immunoblotting Réaction chaîne polymérase Sphingolipidose héréditaire Tay Sachs
- Keyword (en)
- Molecular biology Exploration Clinical form Human Lipids Genetic disease Mutation Metabolic diseases Northern blotting Immunoblotting assay Polymerase chain reaction Tay Sachs disease
- Keyword (es)
- Biología molecular Exploración Forma clínica Hombre Lípido Enfermedad hereditaria Mutación Metabolismo patología Reacción cadena polimerasa Esfingolipidosis hereditaria Tay Sachs
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B22 Metabolic diseases / 002B22D Errors of metabolism / 002B22D02 Lipids (lysosomal enzyme disorders, storage diseases)
- Discipline
- Metabolic diseases
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 5318088
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
Install on your browser
"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:0:\"\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:117:\"A Cys138-to-Arg subsitution in the GM2 activator protein is associated with the AB variant form of GM2 gangliosidosis\";s:9:\"\u0000*\u0000jtitle\";s:34:\"American journal of human genetics\";s:9:\"\u0000*\u0000stitle\";s:17:\"Am. j. hum. genet\";s:7:\"\u0000*\u0000date\";s:4:\"1992\";s:9:\"\u0000*\u0000volume\";s:2:\"50\";s:8:\"\u0000*\u0000issue\";s:1:\"5\";s:8:\"\u0000*\u0000spage\";s:4:\"1046\";s:8:\"\u0000*\u0000epage\";s:4:\"1052\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0002-9297\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:7:\"BEI XIE\";s:10:\"\u0000*\u0000aufirst\";s:0:\"\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:2:{i:0;s:8:\"WEI WANG\";i:1;s:13:\"MAHURAN, D. J\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:6:\"AJHGAG\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:117:\"A Cys138-to-Arg subsitution in the GM2 activator protein is associated with the AB variant form of GM2 gangliosidosis\";s:8:\"\u0000*\u0000place\";s:11:\"Chicago, IL\";s:6:\"\u0000*\u0000pub\";s:27:\"University of Chicago 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:0:\"\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:117:\"A Cys138-to-Arg subsitution in the GM2 activator protein is associated with the AB variant form of GM2 gangliosidosis\";s:9:\"\u0000*\u0000jtitle\";s:34:\"American journal of human genetics\";s:9:\"\u0000*\u0000stitle\";s:17:\"Am. j. hum. genet\";s:7:\"\u0000*\u0000date\";s:4:\"1992\";s:9:\"\u0000*\u0000volume\";s:2:\"50\";s:8:\"\u0000*\u0000issue\";s:1:\"5\";s:8:\"\u0000*\u0000spage\";s:4:\"1046\";s:8:\"\u0000*\u0000epage\";s:4:\"1052\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0002-9297\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:7:\"BEI XIE\";s:10:\"\u0000*\u0000aufirst\";s:0:\"\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:2:{i:0;s:8:\"WEI WANG\";i:1;s:13:\"MAHURAN, D. J\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:6:\"AJHGAG\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:117:\"A Cys138-to-Arg subsitution in the GM2 activator protein is associated with the AB variant form of GM2 gangliosidosis\";s:8:\"\u0000*\u0000place\";s:11:\"Chicago, IL\";s:6:\"\u0000*\u0000pub\";s:27:\"University of Chicago 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:\"EuropePMCOpenUrl\":35:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000fmt\";s:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:0:\"\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:117:\"A Cys138-to-Arg subsitution in the GM2 activator protein is associated with the AB variant form of GM2 gangliosidosis\";s:9:\"\u0000*\u0000jtitle\";s:34:\"American journal of human genetics\";s:9:\"\u0000*\u0000stitle\";s:17:\"Am. j. hum. genet\";s:7:\"\u0000*\u0000date\";s:4:\"1992\";s:9:\"\u0000*\u0000volume\";s:2:\"50\";s:8:\"\u0000*\u0000issue\";s:1:\"5\";s:8:\"\u0000*\u0000spage\";s:4:\"1046\";s:8:\"\u0000*\u0000epage\";s:4:\"1052\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0002-9297\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:7:\"BEI XIE\";s:10:\"\u0000*\u0000aufirst\";s:0:\"\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:2:{i:0;s:8:\"WEI WANG\";i:1;s:13:\"MAHURAN, D. J\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:6:\"AJHGAG\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:117:\"A Cys138-to-Arg subsitution in the GM2 activator protein is associated with the AB variant form of GM2 gangliosidosis\";s:8:\"\u0000*\u0000place\";s:11:\"Chicago, IL\";s:6:\"\u0000*\u0000pub\";s:27:\"University of Chicago 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:0:\"\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:117:\"A Cys138-to-Arg subsitution in the GM2 activator protein is associated with the AB variant form of GM2 gangliosidosis\";s:9:\"\u0000*\u0000jtitle\";s:34:\"American journal of human genetics\";s:9:\"\u0000*\u0000stitle\";s:17:\"Am. j. hum. genet\";s:7:\"\u0000*\u0000date\";s:4:\"1992\";s:9:\"\u0000*\u0000volume\";s:2:\"50\";s:8:\"\u0000*\u0000issue\";s:1:\"5\";s:8:\"\u0000*\u0000spage\";s:4:\"1046\";s:8:\"\u0000*\u0000epage\";s:4:\"1052\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0002-9297\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:7:\"BEI XIE\";s:10:\"\u0000*\u0000aufirst\";s:0:\"\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:2:{i:0;s:8:\"WEI WANG\";i:1;s:13:\"MAHURAN, D. J\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:6:\"AJHGAG\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:117:\"A Cys138-to-Arg subsitution in the GM2 activator protein is associated with the AB variant form of GM2 gangliosidosis\";s:8:\"\u0000*\u0000place\";s:11:\"Chicago, IL\";s:6:\"\u0000*\u0000pub\";s:27:\"University of Chicago 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:0:\"\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:117:\"A Cys138-to-Arg subsitution in the GM2 activator protein is associated with the AB variant form of GM2 gangliosidosis\";s:9:\"\u0000*\u0000jtitle\";s:34:\"American journal of human genetics\";s:9:\"\u0000*\u0000stitle\";s:17:\"Am. j. hum. genet\";s:7:\"\u0000*\u0000date\";s:4:\"1992\";s:9:\"\u0000*\u0000volume\";s:2:\"50\";s:8:\"\u0000*\u0000issue\";s:1:\"5\";s:8:\"\u0000*\u0000spage\";s:4:\"1046\";s:8:\"\u0000*\u0000epage\";s:4:\"1052\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0002-9297\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:7:\"BEI XIE\";s:10:\"\u0000*\u0000aufirst\";s:0:\"\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:2:{i:0;s:8:\"WEI WANG\";i:1;s:13:\"MAHURAN, D. J\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:6:\"AJHGAG\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:117:\"A Cys138-to-Arg subsitution in the GM2 activator protein is associated with the AB variant form of GM2 gangliosidosis\";s:8:\"\u0000*\u0000place\";s:11:\"Chicago, IL\";s:6:\"\u0000*\u0000pub\";s:27:\"University of Chicago 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
