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J-GLOBAL ID：201902219813728813   Reference number：19A1928504

Comprehensive analysis of spectral distribution of a large cohort of Chinese patients with non-syndromic oculocutaneous albinism facilitates genetic diagnosis

非症候性眼皮膚白皮症の中国人患者の大規模コホートの包括的スペクトル分布解析は遺伝子診断を促進する

Author (15)： Zhong Zilin (Department of Pediatrics of Shanghai Tenth People’s Hospital, Tongji University School of Medicine, Shanghai, China) ,  Zhong Zilin (Department of Medical Genetics, Tongji University School of Medicine, Shanghai, China) ,  Zhong Zilin (Department of Regenerative Medicine, Tongji University School of Medicine, Shanghai, China) ,  Gu Li (Department of Pediatrics of Shanghai Tenth People’s Hospital, Tongji University School of Medicine, Shanghai, China) ,  Zheng Xiujie (Department of Pediatrics of Shanghai Tenth People’s Hospital, Tongji University School of Medicine, Shanghai, China) ,  Zheng Xiujie (Department of Medical Genetics, Tongji University School of Medicine, Shanghai, China) ,  Ma Nengjun (Department of Pediatrics of Shanghai Tenth People’s Hospital, Tongji University School of Medicine, Shanghai, China) ,  Ma Nengjun (Department of Medical Genetics, Tongji University School of Medicine, Shanghai, China) ,  Wu Zehua (Department of Pediatrics of Shanghai Tenth People’s Hospital, Tongji University School of Medicine, Shanghai, China) ,  Wu Zehua (Department of Medical Genetics, Tongji University School of Medicine, Shanghai, China) ,  Duan Juan (Department of Auxiliary Reproductive, Jiujiang Maternal and Child Health Hospital, Jiujiang, China) ,  Zhang Jun (Department of Regenerative Medicine, Tongji University School of Medicine, Shanghai, China) ,  Chen Jianjun (Department of Pediatrics of Shanghai Tenth People’s Hospital, Tongji University School of Medicine, Shanghai, China) ,  Chen Jianjun (Department of Medical Genetics, Tongji University School of Medicine, Shanghai, China) ,  Chen Jianjun (Department of Regenerative Medicine, Tongji University School of Medicine, Shanghai, China)
Material： Pigment Cell & Melanoma Research  (Pigment Cell Melanoma Res)
Volume： 32  Issue： 5  Page： 672-686  Publication year： Sep. 2019 
JST Material Number： T0984A  ISSN： 1755-1471  Document type： Article
Article type： 原著論文  Country of issue： United Kingdom (GBR)  Language： ENGLISH (EN)

Thesaurus term： *hereditary disease ,...
Semi thesaurus term： melanization ,...

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Author keywords (4)： genes ,  oculocutaneous albinism ,  phenotype ,  variants

JST classification (3)： Diagnostics of congenital diseases, deformities.  (GD03020G) ,  Dermatlogic diagnosis  (GF02000J) ,  Eye diagnosis(= ophthalmic diagnosis)  (GP02000N)

Terms in the title (11)： 症候 ,  眼皮膚白皮症 ,  中国人 ,  患者 ,  大規模 ,  コホート ,  スペクトル ,  分布 ,  解析 ,  遺伝子診断 ,  促進