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J-GLOBAL ID：201702238114143117   Reference number：17A1233401

An XPA gene splicing mutation resulting in trace protein expression in an elderly patient with xeroderma pigmentosum group A without neurological abnormalities

神経学的異常を伴わない色素性乾皮症A群の高齢患者における微量蛋白質発現をもたらすXPA遺伝子スプライシング突然変異【Powered by NICT】

Author (11)： Takahashi Y. (Biological Science Research, Kao Corporation, Odawara, Japan) ,  Endo Y. (Biological Science Research, Kao Corporation, Odawara, Japan) ,  Kusaka-Kikushima A. (Biological Science Research, Kao Corporation, Odawara, Japan) ,  Nakamaura S. (Biological Science Research, Kao Corporation, Odawara, Japan) ,  Nakazawa Y. (Department of Molecular Medicine, Atomic Bomb Disease Institute, Nagasaki University, Nagasaki, Japan) ,  Ogi T. (Department of Molecular Medicine, Atomic Bomb Disease Institute, Nagasaki University, Nagasaki, Japan) ,  Ogi T. (Department of Genetics, Research Institute of Environmental Medicine, Nagoya University, Nagoya, Japan) ,  Uryu M. (Department of Dermatology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan) ,  Tsuji G. (Department of Dermatology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan) ,  Furue M. (Department of Dermatology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan) ,  Moriwaki S. (Department of Dermatology, Osaka Medical College, 2-7 Daigaku-machi, Takatsuki, Osaka, 569-8686, Japan)
Material： British Journal of Dermatology  (Br J Dermatol)
Volume： 177  Issue： 1  Page： 253-257  Publication year： 2017 
JST Material Number： C0967B  ISSN： 0007-0963  Document type： Article
Article type： 原著論文  Country of issue： United States (USA)  Language： ENGLISH (EN)

Abstract/Point： A certain relationship between...

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Thesaurus term： Phenotype ,  Western blotting ,  *Mutation ,  *patient ,  *Xeroderma Pigmentosum ,  DNA Repair ,  adult (person) ,  mRNA ,  Japanese ,  Xeroderma Pigmentosum Group A Protein ,  DNA binding domain ,  *XPA gene ,  *protein expression ,  *Genetic Variation ,  bioassay
Semi thesaurus term： *variation(biology) ,  genetic variation , 【Automatic Indexing@JST】

JST classification (1)： Molecular genetics in general  (EC02010J)

Terms in the title (7)： 神経学 ,  色素性乾皮症 ,  高齢患者 ,  蛋白質発現 ,  XPA遺伝子 ,  スプライシング ,  突然変異