Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis.

Brain : a journal of neurology

Volumn 136, Issue Pt 12, 2013, Pages 3618-3624

  Harlalka, Gaurav V ^a   Lehman, Anna ^b   Chioza, Barry ^b   Baple, Emma L ^b   Maroofian, Reza ^b   Cross, Harold ^b   Sreekantan Nair, Ajith ^b   Priestman, David A ^b   Al Turki, Saeed ^b   McEntagart, Meriel E ^b   Proukakis, Christos ^b   Royle, Louise ^b   Kozak, Radoslaw P ^b   Bastaki, Laila ^b   Patton, Michael ^b   Wagner, Karin ^b   Coblentz, Roselyn ^b   Price, Joy ^b   Mezei, Michelle ^b   Schlade Bartusiak, Kamilla ^b   Platt, Frances M ^b   Hurles, Matthew E ^b   Crosby, Andrew H ^b   more..

^a UNIVERSITY OF EXETER MEDICAL SCHOOL   (United Kingdom)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

(N-ACETYLNEURAMINYL)-GALACTOSYLGLUCOSYLCERAMIDE N-ACETYLGALACTOSAMINYLTRANSFERASE; GANGLIOSIDE; N ACETYLGALACTOSAMINYLTRANSFERASE;

AMISH; BIOSYNTHESIS; CELL CULTURE; FAMILY HEALTH; FEMALE; FIBROBLAST; GENETICS; GM2 GANGLIOSIDOSIS; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; ITALY; MALE; METABOLISM; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PHENOTYPE; SKIN;

AMISH; CELLS, CULTURED; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; FIBROBLASTS; GANGLIOSIDES; GANGLIOSIDOSES, GM2; HUMANS; ITALY; MALE; MUTATION; N-ACETYLGALACTOSAMINYLTRANSFERASES; PHENOTYPE; SKIN;

EID: 84893485192     PISSN: None     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awt270     Document Type: Article

References (0)