Publications:

Fumarate hydratase enzyme activity in lymphoblastoid cells and fibroblasts of individuals in families with hereditary leiomyomatosis and renal cell cancer.

Journal Of Medical Genetics

Pithukpakorn, M M; Wei, M-H MH; Toure, O O; Steinbach, P J PJ; Glenn, G M GM; Zbar, B B; Linehan, W M WM; Toro, J R JR

Publication Date: 2006-09

Variant appearance in text: VEGF: S323N

PubMed Link: 16597677

Variant Present in the following documents:

• Main text

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Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer.

Journal Of Medical Genetics

Wei, M-H MH; Toure, O O; Glenn, G M GM; Pithukpakorn, M M; Neckers, L L; Stolle, C C; Choyke, P P; Grubb, R R; Middelton, L L; Turner, M L ML; Walther, M M MM; Merino, M J MJ; Zbar, B B; Linehan, W M WM; Toro, J R JR

Publication Date: 2006-01

Variant appearance in text: VEGF: S323N

PubMed Link: 15937070

Variant Present in the following documents:

• Main text

View BVdb publication page