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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Bibliographic Details
Published in: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
Format: Artigo
Language:Inglês
Published: John Wiley and Sons Inc. 2017
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Original Articles
Online Access: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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