Article
Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America.
American journal of human genetics - 1 Jul 2003
Toro Jorge R, Nickerson Michael L, Wei Ming-Hui, Warren Michelle B, Glenn Gladys M, Turner Maria L, Stewart Laveta, Duray Paul, Tourre Ousman, Sharma Nirmala, Choyke Peter, Stratton Pamela, Merino Maria, Walther McClellan M, Linehan W Marston, Schmidt Laura S, Zbar Berton
Abstract excerpt
Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an autosomal dominant disorder characterized by smooth-muscle tumors of the skin and uterus and/or renal cancer. Although the identification of germline mutations in the fumarate hydratase (FH) gene in European families supports it as the susceptibility gene for HLRCC, its role in families in North America has not been studied. We screened for germline...
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