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Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies
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Document type | Article de périodique (Journal article) – Article de recherche |
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Access type | Accès libre |
Publication date | 2018 |
Language | Anglais |
Journal information | "Kidney international" - Vol. 93, no. 4, p. 961-967 (2018) |
Peer reviewed | yes |
Publisher | Elsevier ((United States) New York, NY) |
issn | 0085-2538 |
e-issn | 1523-1755 |
Publication status | Publié |
Affiliations |
UCL
- SSS/IREC/NEFR - Pôle de Néphrologie UCL - SSS/IREC/SLUC - Pôle St.-Luc UCL - SSS/IREC/PEDI - Pôle de Pédiatrie UCL - (SLuc) Service de néphrologie UCL - (SLuc) Service de pédiatrie spécialisée |
Keywords | Bartter syndrome ; Gitelman syndrome ; Children ; Genetic testing ; Next generation sequencing ; Renal tubular acidosis ; Tubulopathy |
Links |
Bibliographic reference | Ashton, Emma J. ; Legrand, Anne ; Benoit, Valerie ; Roncelin, Isabelle ; Venisse, Annabelle ; et. al. Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies. In: Kidney international, Vol. 93, no. 4, p. 961-967 (2018) |
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Permanent URL | http://hdl.handle.net/2078.1/198182 |