ABCA12 p.Pro1798Leu
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PMID: 19262603
[PubMed]
Sakai K et al: "ABCA12 is a major causative gene for non-bullous congenital ichthyosiform erythroderma."
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26
A total of six ABCA12 mutations were identified, and four of them-p.Trp1235Ser in the extracellular domain between the fifth and the sixth transmembrane domains, p.Pro1798Leu in the extracellular domain close to the seventh transmembrane domain, p.Thr1980Lys in the Abbreviations: LI, lamellar ichthyosis; NBCIE, non-bullous congenital ichthyosiform erythroderma; SNP, single-nucleotide polymorphism; TGase1, transglutaminase-1 Journal of Investigative Dermatology (2009), Volume 129 K Sakai et al. ABCA12 Mutations in Ichthyosiform Erythroderma extracellular domain close to the eighth transmembrane domain, and p.Arg2482X in the second adenosine triphosphate-binding cassette-were previously unidentified mutations.
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ABCA12 p.Pro1798Leu 19262603:26:164
status: NEW42 Age Sex ABCA12 mutation TGM1 mutation References NBCIE1 0 F p.[Pro1798Leu]+[?]
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ABCA12 p.Pro1798Leu 19262603:42:63
status: NEW