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pro vyhledávání: '"Elisabeth Praud"'
Autor:
André Hanauer, Solange Pannetier, Gérard Champion, Elisabeth Praud, Dominique Martin-Coignard, C. Oudet
Publikováno v:
Human Genetics. 99:781-784
Mutations in the CLCN5 gene, mapped in Xp11.22, have been recently reported to be associated with X-linked nephrolithiasis, X-linked recessive hypophosphataemic rickets and Dent's disease. We report a missense mutation in exon 6 of the CLCN5 gene. Th