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A founder deletion in the TRPM1 gene associated with congenital stationary night blindness and myopia is highly prevalent in Ashkenazi Jews.
Hirsch, Yoel; Zeevi, David A; Lam, Byron L; Scher, Sholem Y; Bringer, Rachel; Cherki, Bitya; Cohen, Cadina C; Muallem, Hagit; Chiang, John Pei-Wen; Pantrangi, Madhulatha; Ekstein, Josef; Johansson, Martin M.
Afiliação
  • Hirsch Y; Dor Yeshorim, The Committee for Prevention of Jewish Genetic Diseases, Brooklyn, NY USA.
  • Zeevi DA; Dor Yeshorim, The Committee for Prevention of Jewish Genetic Diseases, Jerusalem, Israel.
  • Lam BL; 3Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL USA.
  • Scher SY; Dor Yeshorim, The Committee for Prevention of Jewish Genetic Diseases, Brooklyn, NY USA.
  • Bringer R; Dor Yeshorim, The Committee for Prevention of Jewish Genetic Diseases, Jerusalem, Israel.
  • Cherki B; Dor Yeshorim, The Committee for Prevention of Jewish Genetic Diseases, Jerusalem, Israel.
  • Cohen CC; Dor Yeshorim, The Committee for Prevention of Jewish Genetic Diseases, Jerusalem, Israel.
  • Muallem H; Dor Yeshorim, The Committee for Prevention of Jewish Genetic Diseases, Jerusalem, Israel.
  • Chiang JP; Molecular Vision Laboratory, Hillsboro, OR USA.
  • Pantrangi M; PreventionGenetics, Marshfield, WI 54449 USA.
  • Ekstein J; Dor Yeshorim, The Committee for Prevention of Jewish Genetic Diseases, Brooklyn, NY USA.
  • Johansson MM; Dor Yeshorim, The Committee for Prevention of Jewish Genetic Diseases, Brooklyn, NY USA.
Hum Genome Var ; 6: 45, 2019.
Article em En | MEDLINE | ID: mdl-31645983

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2019 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2019 Tipo de documento: Article