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Combined mineralocorticoid and glucocorticoid deficiency is caused by a novel founder nicotinamide nucleotide transhydrogenase mutation that alters mitochondrial morphology and increases oxidative stress.
Weinberg-Shukron, Ariella; Abu-Libdeh, Abdulsalam; Zhadeh, Fouad; Carmel, Liran; Kogot-Levin, Aviram; Kamal, Lara; Kanaan, Moien; Zeligson, Sharon; Renbaum, Paul; Levy-Lahad, Ephrat; Zangen, David.
Afiliación
  • Weinberg-Shukron A; Medical Genetics Institute, Shaare Zedek Medical Center, Jerusalem, Israel Hebrew University Hadassah Medical School, Jerusalem, Israel.
  • Abu-Libdeh A; Division of Pediatric Endocrinology, Hadassah Hebrew University Medical Center, Jerusalem, Israel.
  • Zhadeh F; Department of Genetics, The Hebrew University of Jerusalem, Jerusalem, Israel Hereditary Research Laboratory, Bethlehem University, Bethlehem, Palestine.
  • Carmel L; Department of Genetics, The Hebrew University of Jerusalem, Jerusalem, Israel.
  • Kogot-Levin A; Diabetes Unit, Department of Internal Medicine, Hadassah University Hospital, Jerusalem, Israel.
  • Kamal L; Hereditary Research Laboratory, Bethlehem University, Bethlehem, Palestine.
  • Kanaan M; Hereditary Research Laboratory, Bethlehem University, Bethlehem, Palestine.
  • Zeligson S; Medical Genetics Institute, Shaare Zedek Medical Center, Jerusalem, Israel.
  • Renbaum P; Medical Genetics Institute, Shaare Zedek Medical Center, Jerusalem, Israel.
  • Levy-Lahad E; Medical Genetics Institute, Shaare Zedek Medical Center, Jerusalem, Israel Hebrew University Hadassah Medical School, Jerusalem, Israel.
  • Zangen D; Division of Pediatric Endocrinology, Hadassah Hebrew University Medical Center, Jerusalem, Israel.
J Med Genet ; 52(9): 636-41, 2015 Sep.
Article en En | MEDLINE | ID: mdl-26070314
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Receptores de Mineralocorticoides / Glucocorticoides / Mineralocorticoides / Mutación / NADP Transhidrogenasas Límite: Humans Idioma: En Revista: J Med Genet Año: 2015 Tipo del documento: Article País de afiliación: Israel Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Receptores de Mineralocorticoides / Glucocorticoides / Mineralocorticoides / Mutación / NADP Transhidrogenasas Límite: Humans Idioma: En Revista: J Med Genet Año: 2015 Tipo del documento: Article País de afiliación: Israel Pais de publicación: Reino Unido