human-collq

Name : Homo sapiens acetylcholinesterase collagen-like tail subunit (COLQ) mRNA

Species : Homo sapiens

Organism : man

Genbank : AF057036

NCBI PID : 3378117

NCBI NID : 3378118

OMIM : 603033

Entrezgene : 8292

Sequence : human-collq

Protein : human-collq

Peptide : human-collq

References

Title : Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme - Ohno_1998_Proc.Natl.Acad.Sci.U.S.A_95_9654

Author(s) : Ohno K , Brengman J , Tsujino A , Engel AG

Ref : Proceedings of the National Academy of Sciences of the United States of America , 95 :9654 , 1998

Abstract :

PubMedSearch : Ohno_1998_Proc.Natl.Acad.Sci.U.S.A_95_9654

PubMedID: 9689136

Title : Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (Type Ic) - Donger_1998_Am.J.Hum.Genet_63_967

Author(s) : Donger C , Krejci E , Serradell AP , Eymard B , Bon S , Nicole S , Chateau D , Gary F , Fardeau M , Massoulie J , Guicheney P

Ref : American Journal of Human Genetics , 63 :967 , 1998

Abstract :

PubMedSearch : Donger_1998_Am.J.Hum.Genet_63_967

PubMedID: 9758617

human-collq

Molecular evidence

Mutation (8)

Structure (0)

Kinetic (0)

Inhibitor (0)

Disease by interaction (1)

References

Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme

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