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Functional Characterization of PRKAR1A Mutations Reveals a Unique Molecular Mechanism Causing Acrodysostosis but Multiple Mechanisms Causing Carney Complex.
Rhayem, Yara; Le Stunff, Catherine; Abdel Khalek, Waed; Auzan, Colette; Bertherat, Jerome; Linglart, Agnès; Couvineau, Alain; Silve, Caroline; Clauser, Eric.
Affiliation
  • Rhayem Y; From the INSERM U970, Université Paris Descartes, Paris Centre de Recherche Cardiovasculaire, 56 Rue Leblanc, 75015 Paris, France, the Service de Biochimie et Génétique Moléculaire and.
  • Le Stunff C; INSERM U1169, Université Paris Sud, Hôpital Bicêtre, 94270 Le Kremlin Bicêtre, France.
  • Abdel Khalek W; From the INSERM U970, Université Paris Descartes, Paris Centre de Recherche Cardiovasculaire, 56 Rue Leblanc, 75015 Paris, France.
  • Auzan C; From the INSERM U970, Université Paris Descartes, Paris Centre de Recherche Cardiovasculaire, 56 Rue Leblanc, 75015 Paris, France.
  • Bertherat J; Service d'Endocrinologie, Hôpital Cochin, Assistance Publique, Hôpitaux de Paris, 75014 Paris, France, the Institut Cochin, INSERM U1060, Université Paris Descartes, 75014 Paris, France.
  • Linglart A; the Service d'Endocrinologie Pédiatrique, Hôpital Bicêtre, Assistance Publique, Hôpitaux de Paris, 94270 Le Kremlin Bicêtre, France, and.
  • Couvineau A; UMR 1149 INSERM, Université Paris Diderot, ERL CNRS 8252, Faculté de Médecine Site Bichat, 75018 Paris, France.
  • Silve C; the Service de Biochimie et Génétique Moléculaire and INSERM U1169, Université Paris Sud, Hôpital Bicêtre, 94270 Le Kremlin Bicêtre, France.
  • Clauser E; From the INSERM U970, Université Paris Descartes, Paris Centre de Recherche Cardiovasculaire, 56 Rue Leblanc, 75015 Paris, France, the Service de Biochimie et Génétique Moléculaire and eric.clauser@inserm.fr.
J Biol Chem ; 290(46): 27816-28, 2015 Nov 13.
Article in En | MEDLINE | ID: mdl-26405036
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Osteochondrodysplasias / Dysostoses / Cyclic AMP-Dependent Protein Kinase RIalpha Subunit / Carney Complex / Intellectual Disability Limits: Humans Language: En Journal: J Biol Chem Year: 2015 Document type: Article Country of publication: United States
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Osteochondrodysplasias / Dysostoses / Cyclic AMP-Dependent Protein Kinase RIalpha Subunit / Carney Complex / Intellectual Disability Limits: Humans Language: En Journal: J Biol Chem Year: 2015 Document type: Article Country of publication: United States