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Estimating carrier frequencies of newborn screening disorders using a whole-genome reference panel of 3552 Japanese individuals.
Yamaguchi-Kabata, Yumi; Yasuda, Jun; Uruno, Akira; Shimokawa, Kazuro; Koshiba, Seizo; Suzuki, Yoichi; Fuse, Nobuo; Kawame, Hiroshi; Tadaka, Shu; Nagasaki, Masao; Kojima, Kaname; Katsuoka, Fumiki; Kumada, Kazuki; Tanabe, Osamu; Tamiya, Gen; Yaegashi, Nobuo; Kinoshita, Kengo; Yamamoto, Masayuki; Kure, Shigeo.
Afiliação
  • Yamaguchi-Kabata Y; Tohoku Medical Megabank Organization, Tohoku University, 2-1 Seiryo-machi, Aoba-ku, Sendai, 980-8573, Japan. yamaguchi@megabank.tohoku.ac.jp.
  • Yasuda J; Graduate School of Medicine, Tohoku University, 2-1 Seiryo-machi, Aoba-ku, Sendai, 980-8575, Japan. yamaguchi@megabank.tohoku.ac.jp.
  • Uruno A; Tohoku Medical Megabank Organization, Tohoku University, 2-1 Seiryo-machi, Aoba-ku, Sendai, 980-8573, Japan.
  • Shimokawa K; Graduate School of Medicine, Tohoku University, 2-1 Seiryo-machi, Aoba-ku, Sendai, 980-8575, Japan.
  • Koshiba S; Present address: Miygai Cancer Center Research Institute, 47-1, Noda-yama,, Medeshima-shiode, Natori, 981-1293, Japan.
  • Suzuki Y; Tohoku Medical Megabank Organization, Tohoku University, 2-1 Seiryo-machi, Aoba-ku, Sendai, 980-8573, Japan.
  • Fuse N; Graduate School of Medicine, Tohoku University, 2-1 Seiryo-machi, Aoba-ku, Sendai, 980-8575, Japan.
  • Kawame H; Tohoku Medical Megabank Organization, Tohoku University, 2-1 Seiryo-machi, Aoba-ku, Sendai, 980-8573, Japan.
  • Tadaka S; Tohoku Medical Megabank Organization, Tohoku University, 2-1 Seiryo-machi, Aoba-ku, Sendai, 980-8573, Japan.
  • Nagasaki M; Tohoku Medical Megabank Organization, Tohoku University, 2-1 Seiryo-machi, Aoba-ku, Sendai, 980-8573, Japan.
  • Kojima K; Graduate School of Medicine, Tohoku University, 2-1 Seiryo-machi, Aoba-ku, Sendai, 980-8575, Japan.
  • Katsuoka F; Present address: Ageo Central General Hospital, 1-10-10 Kashiwa-za, Ageo, 362-8588, Japan.
  • Kumada K; Tohoku Medical Megabank Organization, Tohoku University, 2-1 Seiryo-machi, Aoba-ku, Sendai, 980-8573, Japan.
  • Tanabe O; Graduate School of Medicine, Tohoku University, 2-1 Seiryo-machi, Aoba-ku, Sendai, 980-8575, Japan.
  • Tamiya G; Tohoku Medical Megabank Organization, Tohoku University, 2-1 Seiryo-machi, Aoba-ku, Sendai, 980-8573, Japan.
  • Yaegashi N; Graduate School of Medicine, Tohoku University, 2-1 Seiryo-machi, Aoba-ku, Sendai, 980-8575, Japan.
  • Kinoshita K; Tohoku Medical Megabank Organization, Tohoku University, 2-1 Seiryo-machi, Aoba-ku, Sendai, 980-8573, Japan.
  • Yamamoto M; Tohoku Medical Megabank Organization, Tohoku University, 2-1 Seiryo-machi, Aoba-ku, Sendai, 980-8573, Japan.
  • Kure S; Graduate School of Medicine, Tohoku University, 2-1 Seiryo-machi, Aoba-ku, Sendai, 980-8575, Japan.
Hum Genet ; 138(4): 389-409, 2019 Apr.
Article em En | MEDLINE | ID: mdl-30887117
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Triagem Neonatal / Doenças Genéticas Inatas / Doenças do Recém-Nascido Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Triagem Neonatal / Doenças Genéticas Inatas / Doenças do Recém-Nascido Idioma: En Ano de publicação: 2019 Tipo de documento: Article