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    Ann Hum Genet. 2008 Jan;72(Pt 1):35-40. Epub 2006 Oct 1.

    Evidence for a founder effect of the germline fumarate hydratase gene mutation R58P causing hereditary leiomyomatosis and renal cell cancer (HLRCC).

    Heinritz W, Paasch U, Sticherling M, Wittekind C, Simon JC, Froster UG, Renner R.

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    Institute of Human Genetics, University of Leipzig, Medical Faculty, Leipzig, Germany. heinw@medizin.uni-leipzig.de

    Abstract

    We report on the results of clinical investigation, pedigree analysis, mutation screening and haplotyping in a family with the syndrome of multiple cutaneous and uterine leiomyomas (MCUL1) and a germline missense mutation (R58P) in the fumarate hydratase gene (FH). We provide evidence for a founder effect for the identified mutation and distant relationship of our family to another familial case of MCUL1 associated with renal cell cancer, which was recently published with the same mutation.

    PMID:
    17908262
    [PubMed - indexed for MEDLINE]

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      Cited by 1 PubMed Central article

      • Structural basis of fumarate hydratase deficiency. [J Inherit Metab Dis. 2011]
        Structural basis of fumarate hydratase deficiency.
        Picaud S, Kavanagh KL, Yue WW, Lee WH, Muller-Knapp S, Gileadi O, Sacchettini J, Oppermann U. J Inherit Metab Dis. 2011 Jun; 34(3):671-6. Epub 2011 Mar 29.

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