Search Results - "Di Perna, M."

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    New insights into cystinuria: 40 new mutations, genotype–phenotype correlation, and digenic inheritance causing partial phenotype by Font-Llitjós, M, Jiménez-Vidal, M, Bisceglia, L, Di Perna, M, de Sanctis, L, Rousaud, F, Zelante, L, Palacín, M, Nunes, V

    Published in Journal of medical genetics (01-01-2005)
    “…Objective: To clarify the genotype–phenotype correlation and elucidate the role of digenic inheritance in cystinuria. Methods: 164 probands from the…”
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    Journal Article
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