Skip to main content

2 Result(s)

within Sylvie Duthel Remove this filter

and

  1. No Access

    Article

    X-linked dominant Charcot-Marie-Tooth neuropathy (CMTX): new mutations in the connexin32 gene

    X-linked dominant Charcot-Marie-Tooth (CMTX) neuropathy has been mapped to the Xq13 region. Subsequently, several mutations that could account for CMTX have been detected in the coding part of the connexin32 (...

    Catherine Ressot, Philippe Latour, Françoise Blanquet-Grossard… in Human Genetics (1996)

  2. No Access

    Article

    Deletion of arginine (608) in acid sphingomyelinase is the prevalent mutation among Niemann-Pick disease type B patients from northern Africa

    There is a high incidence of Niemann-Pick type B disease in the Maghreb region of North Africa, which includes Morocco, Algeria and Tunisia. A hypothesis that there may well be a common, predominant mutant aci...

    Marie T. Vanier, Klaus Ferlinz, Robert Rousson, Sylvie Duthel… in Human Genetics (1993)