ABCA12 p.Gly1136Asn
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PMID: 23682801
[PubMed]
Shimizu Y et al: "Novel ABCA12 missense mutation p.Phe2144Ser underlies congenital ichthyosiform erythroderma."
No.
Sentence
Comment
19
Two mutations of p.Gly1136Asn and p.Phe2144Ser are in the extracytoplasmic loops between the transmembrane domains, and the other mutation, p.Trp1235Ser, is in the intracytoplasmic loop (a) (b) (c) (d) Figure 1.
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ABCA12 p.Gly1136Asn 23682801:19:19
status: NEW