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...
Κύριοι συγγραφείς: | Parmentier, L, Tomlinson, I, Happle, R, Borradori, L |
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Μορφή: | Journal article |
Γλώσσα: | English |
Έκδοση: |
2010
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Παρόμοια τεκμήρια
Παρόμοια τεκμήρια
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Missense mutations in fumarate hydratase in multiple cutaneous and uterine leiomyomatosis and renal cell cancer.
ανά: Alam, N, κ.ά.
Έκδοση: (2005) -
Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency.
ανά: Alam, N, κ.ά.
Έκδοση: (2003) -
Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency
ανά: Alam, N, κ.ά.
Έκδοση: (2003) -
An Aggressive Clinical Presentation of Familial Leiomyomatosis Associated with a Fumarate Hydratase Gene Variant of Uncertain Clinical Significance
ανά: Federica Scarfi, κ.ά.
Έκδοση: (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.
ανά: Ahvenainen, T, κ.ά.
Έκδοση: (2008)