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An Ashkenazi founder mutation in the PKHD1 gene.
Quint, Adina; Sagi, Michal; Carmi, Shai; Daum, Hagit; Macarov, Michal; Ben Neriah, Ziva; Meiner, Vardiela; Elpeleg, Orly; Lerer, Israela.
Afiliación
  • Quint A; Department of Human Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
  • Sagi M; Department of Human Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
  • Carmi S; Braun School of Public Health and Community Medicine, The Hebrew University of Jerusalem, Israel.
  • Daum H; Department of Human Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
  • Macarov M; Department of Human Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
  • Ben Neriah Z; Department of Human Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
  • Meiner V; Department of Human Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
  • Elpeleg O; Department of Human Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
  • Lerer I; Department of Human Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel. Electronic address: lereris@hadassah.org.il.
Eur J Med Genet ; 59(2): 86-90, 2016 Feb.
Article en En | MEDLINE | ID: mdl-26721323

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Análisis Mutacional de ADN / Pruebas Genéticas / Mutación del Sistema de Lectura / Riñón Poliquístico Autosómico Recesivo / Receptores de Superficie Celular Tipo de estudio: Prognostic_studies Límite: Female / Humans / Male / Newborn Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2016 Tipo del documento: Article País de afiliación: Israel

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Análisis Mutacional de ADN / Pruebas Genéticas / Mutación del Sistema de Lectura / Riñón Poliquístico Autosómico Recesivo / Receptores de Superficie Celular Tipo de estudio: Prognostic_studies Límite: Female / Humans / Male / Newborn Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2016 Tipo del documento: Article País de afiliación: Israel