Title : Five New Cases of Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome (MMIHS), with One Case Showing a Novel Mutation.

Pub. Date : 2021 Aug 12

PMID : 34383618






1 Functional Relationships(s)
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1 RESULTS: Four cases showed mutations in the alpha3 and beta4 nicotinic acetylcholine receptor (etaAChR) subunits (CHRNA3 and CHRNB4, respectively) on chromosome 15q24. Acetylcholine cholinergic receptor nicotinic alpha 3 subunit Homo sapiens