ABCB6 p.Arg375Gln
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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.Arg375Gln 24224009:132:44
status: NEW
PMID: 25288164
[PubMed]
Lu C et al: "Novel missense mutations of ABCB6 in two chinese families with dyschromatosis universalis hereditaria."
No.
Sentence
Comment
41
Missense mutations in ABCB6 can cause dominant familial pseudohyperkalemia (p.R375Q) [9] and ocular coloboma (p.A57T and L811V) [10].
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ABCB6 p.Arg375Gln 25288164:41:78
status: NEW