Missense Mutations in Fumarate Hydratase in Multiple Cutaneous and Uterine Leiomyomatosis and Renal Cell Cancer

Heterozygous germline mutations in fumarate hydratase (FH) predispose to the multiple cutaneous and uterine leiomyomatosis syndrome (MCUL), which, when co-existing with renal cancer, is also known as hereditary leiomyomatosis and renal cell cancer. Twenty-seven distinct missense mutations represent...

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Hauptverfasser: Alam, N. Afrina, Olpin, Simon, Rowan, Andrew, Kelsell, David, Leigh, Irene M., Tomlinson, Ian P. M., Weaver, Todd
Format: Artigo
Sprache:Inglês
Veröffentlicht: American Society for Investigative Pathology 2005
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1888487/
https://ncbi.nlm.nih.gov/pubmed/16237213
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