Art

J-GLOBAL ID：201902225155383532   Reference number：19A0870798

Whole-exome sequencing in a Japanese pedigree implicates a rare non-synonymous single-nucleotide variant in BEST3 as a candidate for mandibular prognathism

日本人家系における全エクソーム配列決定は,下顎前突症の候補としてのBEST3における稀な非同義一塩基変異体を示唆する【JST・京大機械翻訳】

Author (5)： Kajii Takashi S. (Section of Orthodontics, Department of Oral Growth and Development, Fukuoka Dental College, 2-15-1 Tamura, Sawara-ku, Fukuoka 814-0193, Japan) ,  Oka Akira (Institute of Medical Sciences, Tokai University, 143 Shimokasuya, Isehara, Kanagawa 259-1193, Japan) ,  Saito Fumio (Department of Orthodontics, Division of Oral Functional Science, Graduate School of Dental Medicine, Hokkaido University, Kita 13 Nishi 7, Kita-ku, Sapporo 060-8586, Japan) ,  Mitsui Jun (Department of Neurology, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655, Japan) ,  Iida Junichiro (Department of Orthodontics, Division of Oral Functional Science, Graduate School of Dental Medicine, Hokkaido University, Kita 13 Nishi 7, Kita-ku, Sapporo 060-8586, Japan)
Material： Bone (New York)  (Bone (N.Y.))
Volume： 122  Page： 193-198  Publication year： 2019 
JST Material Number： E0177D  ISSN： 8756-3282  Document type： Article
Article type： 原著論文  Country of issue： Netherlands (NLD)  Language： ENGLISH (EN)

Abstract/Point： Mandibular prognathism is a ph...

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Thesaurus term： genetics ,  Phenotype ,  East Asia ,  missense mutation ,  *pedigree ,  gene ,  Bestrophins ,  anion channel ,  nucleotide mutation ,  Exosomes ,  linkage analysis ,  susceptibility gene ,  *Whole Exome Sequencing ,  *Japanese ,  natural science

Author keywords (6)： Genetics ,  Whole-exome sequencing ,  Bestrophin 3 ,  Mandibular prognathism ,  Endochondral growth ,  Japanese

JST classification (3)： Congenital diseases,deformities in general.  (GD03010V) ,  Genetic variation  (EC01030Y) ,  Musculoskeletal diseases  (GG03000T)

Terms in the title (6)： 日本人 ,  家系 ,  全エクソーム配列決定 ,  下顎前突症 ,  塩基 ,  変異体