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Functional characterization of ABCC8 variants of unknown significance based on bioinformatics predictions, splicing assays, and protein analyses: Benefits for the accurate diagnosis of congenital hyperinsulinism.
Saint-Martin, Cécile; Cauchois-Le Mière, Marine; Rex, Emily; Soukarieh, Omar; Arnoux, Jean-Baptiste; Buratti, Julien; Bouvet, Delphine; Frébourg, Thierry; Gaildrat, Pascaline; Shyng, Show-Ling; Bellanné-Chantelot, Christine; Martins, Alexandra.
Afiliação
  • Saint-Martin C; Department of Genetics, AP-HP Pitié-Salpêtrière Hospital, Sorbonne University, Paris, France.
  • Cauchois-Le Mière M; Inserm U1245, UFR de Médecine et Pharmacie, UNIROUEN, Normandie University, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.
  • Rex E; Department of Genetics, University Hospital, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.
  • Soukarieh O; Department of Chemical Physiology and Biochemistry, Oregon Health & Science University, Portland, OR, USA.
  • Arnoux JB; Inserm U1245, UFR de Médecine et Pharmacie, UNIROUEN, Normandie University, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.
  • Buratti J; Department of Inherited Metabolic Disease, Necker-Enfants Malades University Hospital, AP-HP, Paris, France.
  • Bouvet D; Department of Genetics, AP-HP Pitié-Salpêtrière Hospital, Sorbonne University, Paris, France.
  • Frébourg T; Department of Genetics, AP-HP Pitié-Salpêtrière Hospital, Sorbonne University, Paris, France.
  • Gaildrat P; Inserm U1245, UFR de Médecine et Pharmacie, UNIROUEN, Normandie University, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.
  • Shyng SL; Department of Genetics, University Hospital, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.
  • Bellanné-Chantelot C; Inserm U1245, UFR de Médecine et Pharmacie, UNIROUEN, Normandie University, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.
  • Martins A; Department of Chemical Physiology and Biochemistry, Oregon Health & Science University, Portland, OR, USA.
Hum Mutat ; 42(4): 408-420, 2021 04.
Article em En | MEDLINE | ID: mdl-33410562
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Biologia Computacional / Hiperinsulinismo Congênito / Receptores de Sulfonilureias Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: França
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Biologia Computacional / Hiperinsulinismo Congênito / Receptores de Sulfonilureias Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: França