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

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...

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Bibliographic Details
Main Authors:	Ahvenainen, T, Lehtonen, H, Lehtonen, R, Vahteristo, P, Aittomäki, K, Baynam, G, Dommering, C, Eng, C, Gruber, S, Grönberg, H, Harvima, R, Herva, R, Hietala, M, Kujala, M, Kääriäinen, H, Sunde, L, Vierimaa, O, Pollard, P, Tomlinson, I, Björck, E, Aaltonen, L, Launonen, V
Format:	Journal article
Language:	English
Published:	2008

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

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