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

Авторы
Gaildrat P. 1 , Tebani A. 3, 1 , Tubeuf H. 5, 1 , Martins A. 1 , Saugier-Veber P. 8, 1 , Frébourg T. 8, 1 , Bekri S. 3, 1 , 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
Журнал
Molecular Genetics and Genomic Medicine
Издательство
Wiley-Blackwell
Номер выпуска
4
Язык
Английский
Страницы
373-389
Статус
Опубликовано
Том
5
Год
2017
Организации
  • 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
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