ABCA12 p.Met1100Arg
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PMID: 22299640
[PubMed]
Peterson H et al: "Novel ABCA-12 Mutations Leading to Recessive Congenital Ichthyosis."
No.
Sentence
Comment
14
Gene testing recently revealed her to have compound heterozygous novel adenosine triphosphate-binding cassette A12 (ABCA12) mutations: a c.3299T>G/p.M1100R and a c.7164dupT/p.Met2389 TyrfsX27.
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ABCA12 p.Met1100Arg 22299640:14:149
status: NEW