Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large-scale rearrangements and splicing variants

Gaildrat P.¹ , Tebani A.^{1, 3} , Tubeuf H.^{1, 5} , Martins A.¹ , Saugier-Veber P.^{1, 8} , Frébourg T.^{1, 8} , Bekri S.^{1, 3} , Lebbah S.² , Bollee G.² , Knebelmann B.² , Sudrié-Arnaud B.³ , Tostivint I.⁴ , Charles T.⁶ , Bertholet-Thomas A. ⁷ , Goldenberg A.⁸ , Barbey F.⁹

Molecular Genetics and Genomic Medicine

Wiley-Blackwell

4

Английский

373-389

Опубликовано

5

2017

• ¹ Inserm U1245|UNIROUEN|Normandie Univ|Normandy Centre for Genomic and Personalized Medicine
• ² Department of Metabolic Biochemistry|Rouen University Hospital
• ³ Interactive Biosoftware
• ⁴ Department of Genetics|Rouen University Hospital
• ⁵ Department of Nephrology|Necker Hospital
• ⁶ Department of Nephrology|La Pitié-Salpêtrière Hospital
• ⁷ Department of Urology
• ⁸ Department of Pediatrics|Lyon University Hospital
• ⁹ Department of Transplantation|CHUV Department of Pediatrics|Lausanne University Hospital