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.
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| Title: | 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. |
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| Authors: | 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.; Department of Genetics, University Hospital, Normandy Centre for Genomic and Personalized Medicine, Rouen, France., Rex E; Department of Chemical Physiology and Biochemistry, Oregon Health & Science University, Portland, OR, USA., Soukarieh O; Inserm U1245, UFR de Médecine et Pharmacie, UNIROUEN, Normandie University, Normandy Centre for Genomic and Personalized Medicine, Rouen, France., Arnoux JB; Department of Inherited Metabolic Disease, Necker-Enfants Malades University Hospital, AP-HP, Paris, France., Buratti J; Department of Genetics, AP-HP Pitié-Salpêtrière Hospital, Sorbonne University, Paris, France., Bouvet D; Department of Genetics, AP-HP Pitié-Salpêtrière Hospital, Sorbonne University, Paris, France., Frébourg T; Inserm U1245, UFR de Médecine et Pharmacie, UNIROUEN, Normandie University, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.; Department of Genetics, University Hospital, Normandy Centre for Genomic and Personalized Medicine, Rouen, 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 Chemical Physiology and Biochemistry, Oregon Health & Science University, Portland, OR, USA., Bellanné-Chantelot C; Department of Genetics, AP-HP Pitié-Salpêtrière Hospital, Sorbonne University, Paris, France., Martins A; Inserm U1245, UFR de Médecine et Pharmacie, UNIROUEN, Normandie University, Normandy Centre for Genomic and Personalized Medicine, Rouen, France. |
| Source: | Human mutation [Hum Mutat] 2021 Apr; Vol. 42 (4), pp. 408-420. Date of Electronic Publication: 2021 Jan 28. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1098-1004 |
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| DOI: | 10.1002/humu.24164 |
