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    Biomedicine. 1977 Mar;27(2):57-9.

    Xanthinuria : study of a large kindred with familial urolithiasis and gout.

    Auscher C, Pasquier C, de Gery A, Weissenbach R, Delbarre F.

    Abstract

    We have carried out biochemical and clinical studies on a large family in which xanthinuria, xanthine lithiasis, uric acid lithiasis and/or gout were discovered. The analysis of its pedigree has shown that : a) the mode of transmission of xanthinuria is autosomal recessive; b) the occurence of xanthine urolithiasis is likely to be due to the association of a second genetic disorder.

    PMID:
    861350
    [PubMed - indexed for MEDLINE]

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