Title : Two novel mutations in the COLQ gene cause endplate acetylcholinesterase deficiency.

Pub. Date : 2003 Mar

PMID : 12609505






1 Functional Relationships(s)
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1 Both patients presented a novel splicing mutation (IVS1-1G-->A) affecting the exon encoding the proline-rich attachment domain (PRAD), which interacts with acetylcholinesterase. Proline acetylcholinesterase (Cartwright blood group) Homo sapiens