Evidence for a new fumarate hydratase gene mutation in a unilateral type 2 segmental leiomyomatosis.
BACKGROUND: Multiple cutaneous and uterine leiomyomata syndrome (MCUL; MIM 150800) is a rare condition that sometimes predisposes to renal cancer. It is caused by deleterious mutations in the fumarate hydratase (FH) gene. In many patients, skin leiomyomas have been reported to develop according to...
المؤلفون الرئيسيون: | Parmentier, L, Tomlinson, I, Happle, R, Borradori, L |
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التنسيق: | Journal article |
اللغة: | English |
منشور في: |
2010
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مواد مشابهة
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Missense mutations in fumarate hydratase in multiple cutaneous and uterine leiomyomatosis and renal cell cancer.
حسب: Alam, N, وآخرون
منشور في: (2005) -
Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency.
حسب: Alam, N, وآخرون
منشور في: (2003) -
Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency
حسب: Alam, N, وآخرون
منشور في: (2003) -
An Aggressive Clinical Presentation of Familial Leiomyomatosis Associated with a Fumarate Hydratase Gene Variant of Uncertain Clinical Significance
حسب: Federica Scarfi, وآخرون
منشور في: (2020-07-01) -
Mutation screening of fumarate hydratase by multiplex ligation-dependent probe amplification: detection of exonic deletion in a patient with leiomyomatosis and renal cell cancer.
حسب: Ahvenainen, T, وآخرون
منشور في: (2008)