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

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Title: Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large-scale rearrangements and splicing variants.
Authors: Gaildrat, Pascaline1, Lebbah, Said2, Tebani, Abdellah1,3, Sudrié‐Arnaud, Bénédicte3, Tostivint, Isabelle4, Bollee, Guillaume2, Tubeuf, Hélène1,5, Charles, Thomas6, Bertholet‐Thomas, Aurelia7, Goldenberg, Alice8, Barbey, Frederic9, Martins, Alexandra1, Saugier‐Veber, Pascale1,8, Frébourg, Thierry1,8, Knebelmann, Bertrand2, Bekri, Soumeya1,3 soumeya.bekri@chu-rouen.fr
Source: Molecular Genetics & Genomic Medicine. Jul2017, Vol. 5 Issue 4, p373-389. 17p.
Database: Academic Search Ultimate
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ISSN:23249269
DOI:10.1002/mgg3.294