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A novel AVPR2 splice site mutation leads to partial X-linked nephrogenic diabetes insipidus in two brothers.
Schernthaner-Reiter, Marie Helene; Adams, David; Trivellin, Giampaolo; Ramnitz, Mary Scott; Raygada, Margarita; Golas, Gretchen; Faucz, Fabio R; Nilsson, Ola; Nella, Aikaterini A; Dileepan, Kavitha; Lodish, Maya; Lee, Paul; Tifft, Cynthia; Markello, Thomas; Gahl, William; Stratakis, Constantine A.
Afiliación
  • Schernthaner-Reiter MH; Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
  • Adams D; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health and Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • Trivellin G; Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
  • Ramnitz MS; Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
  • Raygada M; Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
  • Golas G; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health and Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • Faucz FR; Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
  • Nilsson O; Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
  • Nella AA; Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
  • Dileepan K; Division of Endocrinology and Diabetes, Children's Mercy Hospital, Kansas City, MO, USA.
  • Lodish M; Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA. lodishma@mail.nih.gov.
  • Lee P; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health and Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • Tifft C; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health and Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • Markello T; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health and Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • Gahl W; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health and Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • Stratakis CA; Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
Eur J Pediatr ; 175(5): 727-33, 2016 May.
Article en En | MEDLINE | ID: mdl-26795631
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Receptores de Vasopresinas / Diabetes Insípida Nefrogénica / Sitios de Empalme de ARN / Hermanos / Mutación Tipo de estudio: Prognostic_studies Límite: Child / Humans / Infant / Male Idioma: En Revista: Eur J Pediatr Año: 2016 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Receptores de Vasopresinas / Diabetes Insípida Nefrogénica / Sitios de Empalme de ARN / Hermanos / Mutación Tipo de estudio: Prognostic_studies Límite: Child / Humans / Infant / Male Idioma: En Revista: Eur J Pediatr Año: 2016 Tipo del documento: Article País de afiliación: Estados Unidos