Clinical utility gene card for: Cystinuria.
作者信息
Eggermann Thomas, Zerres Klaus, Nunes Virginia, Font-Llitjós Mariona, Bisceglia Luigi, Chatzikyriakidou Anthoula, dello Strologo Luca, Pras Elon, Creemers John, Palacin Manuel
机构信息
Institut für Humangenetik, RWTH Aachen, Aachen, Germany.
出版信息
Eur J Hum Genet. 2012 Feb;20(2). doi: 10.1038/ejhg.2011.163. Epub 2011 Aug 24.
Abstract
摘要
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Pathophysiology and treatment of cystinuria.
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Large rearrangements detected by MLPA, point mutations, and survey of the frequency of mutations within the SLC3A1 and SLC7A9 genes in a cohort of 172 cystinuric Italian patients.
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Isolated cystinuria (OMIM 238200) is not a separate entity but is caused by a mutation in the cystinuria gene SLC7A9.
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New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype.
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Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification.
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