Mutation in the Human Acetylcholinesterase-Associated Collagen Gene, COLQ, Is Responsible for Congenital Myasthenic Syndrome with End-Plate Acetylcholinesterase Deficiency (Type Ic)-Reference-Cited by-同舟云学术

Mutation in the Human Acetylcholinesterase-Associated Collagen Gene, COLQ, Is Responsible for Congenital Myasthenic Syndrome with End-Plate Acetylcholinesterase Deficiency (Type Ic)

Published:1998-10 Issue:4 Volume:63 Page:967-975
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Donger Claire,Krejci Eric,Pou Serradell Adolf,Eymard Bruno,Bon Suzanne,Nicole Sophie,Chateau Danielle,Gary Françoise,Fardeau Michel,Massoulié Jean,Guicheney Pascale

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference30 articles.

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3. Quaternary associations of acetylcholinesterase. II. The polyproline attachment domain of the collagen tail;Bon;J Biol Chem,1997

4. Anchorage of collagen-tailed acetylcholinesterase to the extracellular matrix is mediated by heparan sulfate proteoglycans;Brandan;J Cell Biol,1985

5. A genetic study of infantile and juvenile myasthenia gravis;Bundey;J Neurol Neurosurg Psychiatry,1972

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