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Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer.

Abstract:

Uterine leiomyomata (fibroids) are common and clinically important tumors, but little is known about their etiology and pathogenesis. We previously mapped a gene that predisposes to multiple fibroids, cutaneous leiomyomata and renal cell carcinoma to chromosome 1q42.3-q43 (refs 4-6). Here we show, through a combination of mapping critical recombinants, identifying individuals with germline mutations and screening known and predicted transcripts, that this gene encodes fumarate hydratase, an e...

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Publisher copy:
10.1038/ng849

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Journal:
Nature genetics
Volume:
30
Issue:
4
Pages:
406-410
Publication date:
2002-04-01
DOI:
EISSN:
1546-1718
ISSN:
1061-4036
Source identifiers:
72198

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