ABCD4 p.Gly486Cys
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PMID: 22922874
[PubMed]
Coelho D et al: "Mutations in ABCD4 cause a new inborn error of vitamin B(12) metabolism."
No.
Sentence
Comment
41
Subject 2 carried two mutations that are predicted to disrupt consensus splice sites: c.542+1G>T, located at the 5' splice donor site of intron 5, and c.1456G>T (p.Gly486Cys), located at the last nucleotide of exon 14.
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ABCD4 p.Gly486Cys 22922874:41:164
status: NEW