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

BACKGROUND: Cystinuria is an autosomal recessive disorder of dibasic amino acid transport in the kidney and the intestine leading to increased urinary cystine excretion and nephrolithiasis. Two genes, SLC3A1 and SLC7A9, coding respectively for rBAT and b0,+AT, account for the genetic basis of cystin...

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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Gaildrat, Pascaline, Lebbah, Said, Tebani, Abdellah, Sudrié‐Arnaud, Bénédicte, Tostivint, Isabelle, Bollee, Guillaume, Tubeuf, Hélène, Charles, Thomas, Bertholet‐Thomas, Aurelia, Goldenberg, Alice, Barbey, Frederic, Martins, Alexandra, Saugier‐Veber, Pascale, Frébourg, Thierry, Knebelmann, Bertrand, Bekri, Soumeya
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2017
Assuntos:
Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5511796/
https://ncbi.nlm.nih.gov/pubmed/28717662
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.294
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