Identification of novel FATP4 mutations in a Japanese patient with ichthyosis prematurity syndrome

Ichthyosis prematurity syndrome (IPS) is a rare autosomal recessive disorder characterized by prematurity, a thick caseous scale at birth and lifelong atopic diathesis. Here, we describe the first Japanese case of IPS and report novel compound heterozygous mutations (p.C403Y and p.R510H) in fatty ac...

詳細記述

保存先:
書誌詳細
出版年:Hum Genome Var
主要な著者: Tsuge, Ikuya, Morishita, Masashi, Kato, Takema, Tsutsumi, Makiko, Inagaki, Hidehito, Mori, Yuji, Yamawaki, Kazuo, Inuo, Chisato, Ieda, Kuniko, Ohye, Tamae, Hayakawa, Akinori, Kurahashi, Hiroki
フォーマット: Artigo
言語:Inglês
出版事項: Nature Publishing Group 2015
主題:
Data Report
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC4785586/
https://ncbi.nlm.nih.gov/pubmed/27081519
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2015.3
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