ABCC8 p.Leu3Pro
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PMID: 10204114
[PubMed]
Aguilar-Bryan L et al: "Molecular biology of adenosine triphosphate-sensitive potassium channels."
No.
Sentence
Comment
704
Thomas et al. (284) reported on a KIR6.2 mutation, a leu3pro change, L147P, near the external side of M2, which demonstrated that mutations in the inward rectifier led to PHHI.
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ABCC8 p.Leu3Pro 10204114:704:53
status: NEW