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Mutation screening of fumarate hydratase by multiplex ligation-dependent probe amplification: detection of exonic deletion in a patient with leiomyomatosis and renal cell cancer.

Abstract:

Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a syndrome predisposing to cutaneous and uterine leiomyomatosis as well as renal cell cancer and uterine leiomyosarcoma. Heterozygous germline mutations in the fumarate hydratase (FH, fumarase) gene are known to cause HLRCC. On occasion, no FH mutation is detected by direct sequencing, despite the evident HLRCC phenotype in a family. In the present study, to investigate whole gene or exonic deletions and amplifications in FH mutation-...

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Publication status:
Published

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Authors


Ahvenainen, T More by this author
Lehtonen, HJ More by this author
Lehtonen, R More by this author
Vahteristo, P More by this author
Aittomäki, K More by this author
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Journal:
Cancer genetics and cytogenetics
Volume:
183
Issue:
2
Pages:
83-88
Publication date:
2008-06-05
DOI:
EISSN:
1873-4456
ISSN:
0165-4608
URN:
uuid:8bce80a4-12a8-403e-8fb9-fa16a0207489
Source identifiers:
72268
Local pid:
pubs:72268

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