Identification of DPAGT1 as a new gene in which mutations cause a congenital myasthenic syndrome

Annals of the New York Academy of Sciences

Volumn 1275, Issue 1, 2012, Pages 29-35

  Belaya, Katsiaryna ^a   Finlayson, Sarah ^a,b   Cossins, Judith ^a   Liu, Wei Wei ^a   Maxwell, Susan ^a   Palace, Jacqueline ^b   Beeson, David ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b JOHN RADCLIFFE HOSPITAL   (United Kingdom)

Author keywords

AChR; Congenital myasthenic syndrome; DPAGT1; Glycosylation; Neuromuscular junction

Indexed keywords

CHOLINERGIC RECEPTOR; CHOLINESTERASE INHIBITOR; DOLICHYL PHOSPHATE(UDP N ACETYLGLUCOSAMINE) N ACETYLGLUCOSAMINEPHOSPHOTRANSFERASE 1; PHOSPHOTRANSFERASE; UNCLASSIFIED DRUG;

ARTICLE; CATALYSIS; CELL SURFACE; CONGENITAL MYASTHENIC SYNDROME; DISEASE COURSE; EXOME; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC IDENTIFICATION; HUMAN; LIMB WEAKNESS; MUSCLE BIOPSY; MUSCLE FATIGUE; MUSCLE WEAKNESS; NERVE ENDING; NEUROMUSCULAR SYNAPSE; PATHOGENESIS; PROTEIN GLYCOSYLATION; SIGNAL TRANSDUCTION; WHOLE EXOME SEQUENCING;

EID: 84871576194     PISSN: 00778923     EISSN: 17496632     Source Type: Book Series    
DOI: 10.1111/j.1749-6632.2012.06790.x     Document Type: Article

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