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Genomic and sequence variants of protein kinase A regulatory subunit type 1ß (PRKAR1B) in patients with adrenocortical disease and Cushing syndrome.
Drougat, Ludivine; Settas, Nikolaos; Ronchi, Cristina L; Bathon, Kerstin; Calebiro, Davide; Maria, Andrea Gutierrez; Haydar, Sara; Voutetakis, Antonios; London, Edra; Faucz, Fabio R; Stratakis, Constantine A.
Afiliación
  • Drougat L; Section on Endocrinology & Genetics (SEGEN), Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, USA.
  • Settas N; Section on Endocrinology & Genetics (SEGEN), Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, USA. nikolaos.settas@nih.gov.
  • Ronchi CL; Institute of Metabolism and System Research (IMSR), University of Birmingham, Birmingham, United Kingdom.
  • Bathon K; Division of Endocrinology and Diabetology, Department of Internal Medicine, University Hospital of Wuerzburg, Würzburg, Germany.
  • Calebiro D; Institute of Pharmacology and Toxicology, University of Würzburg, Würzburg, Germany.
  • Maria AG; Institute of Metabolism and System Research (IMSR), University of Birmingham, Birmingham, United Kingdom.
  • Haydar S; Institute of Pharmacology and Toxicology, University of Würzburg, Würzburg, Germany.
  • Voutetakis A; Centre of Membrane Proteins and Receptors (COMPARE), Universities of Nottingham and Birmingham, Birmingham, United Kingdom.
  • London E; Section on Endocrinology & Genetics (SEGEN), Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, USA.
  • Faucz FR; Section on Endocrinology & Genetics (SEGEN), Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, USA.
  • Stratakis CA; Section on Endocrinology & Genetics (SEGEN), Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, USA.
Genet Med ; 23(1): 174-182, 2021 01.
Article en En | MEDLINE | ID: mdl-32895490
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Texto completo: 1 Colección: 01-internacional Asunto principal: Neoplasias de las Glándulas Suprarrenales / Síndrome de Cushing Límite: Humans Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Asunto principal: Neoplasias de las Glándulas Suprarrenales / Síndrome de Cushing Límite: Humans Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos