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Updated: Jul 31, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
06:33

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Published on: June 9, 2018

GM1のギャングリオシドーシスの遺伝的異質性

H Galjaard, A Hoogeveen, H A de Wit-Verbeek

    Nature
    |September 4, 1975
    PubMed
    まとめ

    No abstract available in PubMed .

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    Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...