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IGHD II: A Novel GH-1 Gene Mutation (GH-L76P) Severely Affects GH Folding, Stability, and Secretion.
Miletta, Maria Consolata; Eblé, Andrée; Janner, Marco; Parween, Shaheena; Pandey, Amit V; Flück, Christa E; Mullis, Primus-E.
Afiliación
  • Miletta MC; University Children's Hospital, Department of Pediatric Endocrinology, Diabetology and Metabolism, Inselspital, and Department of Clinical Research, University of Bern, 3010 Bern, Switzerland.
  • Eblé A; University Children's Hospital, Department of Pediatric Endocrinology, Diabetology and Metabolism, Inselspital, and Department of Clinical Research, University of Bern, 3010 Bern, Switzerland.
  • Janner M; University Children's Hospital, Department of Pediatric Endocrinology, Diabetology and Metabolism, Inselspital, and Department of Clinical Research, University of Bern, 3010 Bern, Switzerland.
  • Parween S; University Children's Hospital, Department of Pediatric Endocrinology, Diabetology and Metabolism, Inselspital, and Department of Clinical Research, University of Bern, 3010 Bern, Switzerland.
  • Pandey AV; University Children's Hospital, Department of Pediatric Endocrinology, Diabetology and Metabolism, Inselspital, and Department of Clinical Research, University of Bern, 3010 Bern, Switzerland.
  • Flück CE; University Children's Hospital, Department of Pediatric Endocrinology, Diabetology and Metabolism, Inselspital, and Department of Clinical Research, University of Bern, 3010 Bern, Switzerland.
  • Mullis PE; University Children's Hospital, Department of Pediatric Endocrinology, Diabetology and Metabolism, Inselspital, and Department of Clinical Research, University of Bern, 3010 Bern, Switzerland.
J Clin Endocrinol Metab ; 100(12): E1575-83, 2015 Dec.
Article en En | MEDLINE | ID: mdl-26485222
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Pliegue de Proteína / Hormona de Crecimiento Humana Tipo de estudio: Prognostic_studies Límite: Animals / Child / Child, preschool / Female / Humans / Infant / Male / Newborn / Pregnancy Idioma: En Revista: J Clin Endocrinol Metab Año: 2015 Tipo del documento: Article País de afiliación: Suiza Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Pliegue de Proteína / Hormona de Crecimiento Humana Tipo de estudio: Prognostic_studies Límite: Animals / Child / Child, preschool / Female / Humans / Infant / Male / Newborn / Pregnancy Idioma: En Revista: J Clin Endocrinol Metab Año: 2015 Tipo del documento: Article País de afiliación: Suiza Pais de publicación: Estados Unidos