Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large-scale rearrangements and splicing variants-Reference-Cited by-同舟云学术

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

Published:2017-05-16 Issue:4 Volume:5 Page:373-389
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Gaildrat Pascaline¹,Lebbah Said²,Tebani Abdellah¹³,Sudrié-Arnaud Bénédicte³,Tostivint Isabelle⁴,Bollee Guillaume²,Tubeuf Hélène¹⁵,Charles Thomas⁶,Bertholet-Thomas Aurelia⁷,Goldenberg Alice⁸,Barbey Frederic⁹,Martins Alexandra¹,Saugier-Veber Pascale¹⁸,Frébourg Thierry¹⁸,Knebelmann Bertrand²,Bekri Soumeya¹³^ORCID

Affiliation:

1. Inserm U1245; UNIROUEN; Normandie Univ; Normandy Centre for Genomic and Personalized Medicine; Rouen France

2. Department of Nephrology; Necker Hospital; Paris France

3. Department of Metabolic Biochemistry; Rouen University Hospital; Rouen France

4. Department of Nephrology; La Pitié-Salpêtrière Hospital; Paris France

5. Interactive Biosoftware; Rouen France

6. Department of Urology; La Milétrie Hospital Poitiers France

7. Department of Pediatrics; Lyon University Hospital; Lyon France

8. Department of Genetics; Rouen University Hospital; Rouen France

9. Department of Transplantation; CHUV Department of Pediatrics; Lausanne University Hospital; Lausanne Switzerland

Funder

Groupement des Entreprises Françaises dans la Lutte contre le Cancer