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首页> Journal of dermatological science> Mutation study for 9 genes in 23 unrelated patients with autosomal recessive congenital ichthyosis in Japan and Malaysia.

Mutation study for 9 genes in 23 unrelated patients with autosomal recessive congenital ichthyosis in Japan and Malaysia.

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第一作者： Sanae,Numata

第一单位： Department of Dermatology, Kurume University School of Medicine, and Kurume University Institute of Cutaneous Cell Biology, Kurume, Japan.

作者： Sanae,Numata ^[1] ; Kwesi,Teye ^[1] ; Rafal P,Krol ^[1] ; Tadashi,Karashima ^[1] ; Shunpei,Fukuda ^[1] ; Mitsuhiro,Matsuda ^[1] ; Norito,Ishii ^[1] ; Minao,Furumura ^[1] ; Chika,Ohata ^[1] ; Sasi D,Saminathan ^[2] ; Roziana,Ariffin ^[2] ; Zacharias A D,Pramono ^[3] ; Kin Fon,Leong ^[4] ; Takahiro,Hamada ^[1] ; Takashi,Hashimoto ^[5]

作者单位： Department of Dermatology, Kurume University School of Medicine, and Kurume University Institute of Cutaneous Cell Biology, Kurume, Japan. ^[1] Department of Medical Genetics, Kuala Lumpur Hospital, Kuala Lumpur, Malaysia. ^[2] Department of Research, National Skin Centre, Singapore, Singapore. ^[3] Department of Dermatology, General Hospital, Kuala Lumpur, Malaysia. ^[4] Department of Dermatology, Kurume University School of Medicine, and Kurume University Institute of Cutaneous Cell Biology, Kurume, Japan. Electronic address: hashimot@med.kurume-u.ac.jp. ^[5]

关键词 Autosomal recessive congenital ichthyosis Malaysia Mutation analysis

主题词 ATP结合匣式转运子(ATP-Binding Cassette Transporters);花生四烯酸盐12-脂氧合酶(Arachidonate 12-Lipoxygenase);DNA突变分析(DNA Mutational Analysis);基因频率(Gene Frequency);遗传标记(Genetic Markers);疾病遗传易感性(Genetic Predisposition to Disease);人类(Humans);鳞癣, 板层状(Ichthyosis, Lamellar);日本(Japan);马来西亚(Malaysia);突变(Mutation);表型(Phenotype);危险因素(Risk Factors)

DOI 10.1016/j.jdermsci.2015.02.006

PMID 25766764

发布时间 2022-12-07

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Journal of dermatological science

Journal of dermatological science

2015年78卷1期

82-5页

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