ABCB6 p.Arg375Trp
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PMID: 24224009
[PubMed]
Cui YX et al: "Novel mutations of ABCB6 associated with autosomal dominant dyschromatosis universalis hereditaria."
No.
Sentence
Comment
132
Heterozygous missense mutations of ABCB6 (p.R375Q and p.R375W) were found in dominant familial pseudohyperkalemia, which were likely to be gain-of-function mutations suggested by Andolfo et al.[17].
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ABCB6 p.Arg375Trp 24224009:132:56
status: NEW