Search Results - "Macías‐Kauffer, Luis"

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    Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) in two Mexican brothers harboring a novel mutation in the ECGF1 gene by Monroy, Nancy, Macías Kauffer, Luis R, Mutchinick, Osvaldo M

    Published in European journal of medical genetics (01-05-2008)
    “…Abstract Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive disease caused by mutations in the thymidine phosphorylase…”
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    Journal Article
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