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Journal article

Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency.

Abstract:

Germline mutations of the fumarate hydratase (FH, fumarase) gene are found in the recessive FH deficiency syndrome and in dominantly inherited susceptibility to multiple cutaneous and uterine leiomyomatosis (MCUL). We have previously reported a number of germline FH mutations from MCUL patients. In this study, we report additional FH mutations in MCUL and FH deficiency patients. Mutations can readily be found in about 75% of MCUL cases and most cases of FH deficiency. Some of the more common ...

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Publisher copy:
10.1093/hmg/ddg148

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Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Medicine, WTC Human Genetics
Role:
Author
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Journal:
Human molecular genetics
Volume:
12
Issue:
11
Pages:
1241-1252
Publication date:
2003-06-05
DOI:
EISSN:
1460-2083
ISSN:
0964-6906
URN:
uuid:0b48eaff-dee6-4d3e-82d6-2b41f558805e
Source identifiers:
72213
Local pid:
pubs:72213

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