Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (type Ic)

American Journal of Human Genetics

Volumn 63, Issue 4, 1998, Pages 967-975

  Donger, Claire ^a   Krejci, Eric ^d   Serradell, Adolf Pou ^e   Eymard, Bruno ^a,b   Bon, Suzanne ^d   Nicole, Sophie ^c   Chateau, Danielle ^a   Gary, Françoise ^f   Fardeau, Michel ^a,b   Massoulié, Jean ^d   Guicheney, Pascale ^a,c  

^a INSERM   (France)

^b Institut de Myologie   (France)

^c PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^d ECOLE NORMALE SUPÉRIEURE   (France)

^e HOSPITAL DEL MAR   (Spain)

^f GÉNÉTHON   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ACETYLCHOLINESTERASE; CHOLINESTERASE INHIBITOR; COLLAGEN;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; EATON LAMBERT SYNDROME; ENZYME ACTIVE SITE; ENZYME DEFICIENCY; ENZYME LOCALIZATION; FEMALE; GENE MAPPING; GENE MUTATION; GENETIC LINKAGE; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; MALE; PRIORITY JOURNAL;

EID: 0032231665     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302059     Document Type: Article

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