Art

J-GLOBAL ID：202002285770175008   Reference number：20A0130275

A founder variant in the South Asian population leads to a high prevalence of FANCL Fanconi anemia cases in India

南アジア人集団における創始者変異はインドにおけるFancl Fanconi貧血症例の高有病率をもたらす【JST・京大機械翻訳】

Author (24)： Donovan Frank X. (Cancer Genomics Unit, Cancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland) ,  Solanki Avani (Department of Cytogenetics, National Institute of Immunohaematology (ICMR), Mumbai, Maharashtra, India) ,  Mori Minako (Laboratory of DNA Damage Signaling, Department of Late Effects Studies, Radiation Biology Centre, Graduate School of Biostudies, Kyoto University, Kyoto, Japan) ,  Mori Minako (Department of Hematology and Oncology, Graduate School of Medicine, Kyoto University, Kyoto, Japan) ,  Chavan Niranjan (Department of Cytogenetics, National Institute of Immunohaematology (ICMR), Mumbai, Maharashtra, India) ,  George Merin (Department of Cytogenetics, National Institute of Immunohaematology (ICMR), Mumbai, Maharashtra, India) ,  C Selvaa Kumar (School of Biotechnology and Bioinformatics, Level 6, D.Y. Patil Deemed to be University, Navi Mumbai, Maharashtra, India) ,  Okuno Yusuke (Center for Advanced Medicine and Clinical Research, Nagoya University Hospital, Nagoya, Japan) ,  Muramastsu Hideki (Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan) ,  Yoshida Kenichi (Department of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University, Kyoto, Japan) ,  Shimamoto Akira (Department of Regenerative Medicine Research, Faculty of Pharmaceutical Sciences, Sanyo-Onoda City University, Sanyo Onoda, Yamaguchi, Japan) ,  Takaori-Kondo Akifumi (Department of Hematology and Oncology, Graduate School of Medicine, Kyoto University, Kyoto, Japan) ,  Yabe Hiromasa (Department of Innovative Medical Science, Tokai University School of Medicine, Isehara, Kanagawa, Japan) ,  Ogawa Seishi (Department of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University, Kyoto, Japan) ,  Kojima Seiji (Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan) ,  Yabe Miharu (Department of Innovative Medical Science, Tokai University School of Medicine, Isehara, Kanagawa, Japan) ,  Ramanagoudr-Bhojappa Ramanagouda (Cancer Genomics Unit, Cancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland) ,  Smogorzewska Agata (Laboratory of Genome Maintenance, The Rockefeller University, New York, New York) ,  Mohan Sheila (Apollo Specialty Hospital, Chennai, India) ,  Rajendran Aruna (Department of Pediatric Hematology, Institute of Child Health and Hospital for Children, Chennai, India) ,  Auerbach Arleen D. (Human Genetics and Hematology Program, The Rockefeller University, New York, New York) ,  Takata Minoru (Laboratory of DNA Damage Signaling, Department of Late Effects Studies, Radiation Biology Centre, Graduate School of Biostudies, Kyoto University, Kyoto, Japan) ,  Chandrasekharappa Settara C. (Cancer Genomics Unit, Cancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland) ,  Vundinti Babu Rao (Department of Cytogenetics, National Institute of Immunohaematology (ICMR), Mumbai, Maharashtra, India)
Material： Human Mutation
Volume： 41  Issue： 1  Page： 122-128  Publication year： 2020 
JST Material Number： W2601A  ISSN： 1059-7794  Document type： Article
Article type： 原著論文  Country of issue： United States (USA)  Language： ENGLISH (EN)

Abstract/Point： Fanconi anemia (FA) is a rare ...

Register(free) or Log In to access     To see more with JDream III (charged).   {{ this.onShowAbsJLink("http://jdream3.com/lp/jglobal/index.html?docNo=20A0130275&from=J-GLOBAL&jstjournalNo=W2601A") }}

Thesaurus term： DNA repair ,  gene ,  Islamic Republic of Pakistan ,  *Fanconi anemia ,  pathogenicity ,  India ,  heredity ,  South Asia ,  *anemia
Semi thesaurus term： 遺伝子検査 ,  先天異常 ,  骨髄機能不全 , 【Automatic Indexing@JST】

Author keywords (5)： FANCL ,  Fanconi anemia ,  founder variant ,  India ,  South Asia

JST classification (3)： Congenital diseases,deformities in general.  (GD03010V) ,  Molecular genetics in general  (EC02010J) ,  Genetic variation  (EC01030Y)

Terms in the title (8)： 南アジア人 ,  集団 ,  創始者変異 ,  インド ,  FANCL ,  Fanconi貧血 ,  症例 ,  有病率