Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma.

Gardie, Betty

Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma. [electronic resource] - Journal of medical genetics Apr 2011 - 226-34 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1468-6244

10.1136/jmg.2010.085068 doi


Adult
Aged
Carcinoma, Renal Cell--genetics
Cell Line, Tumor
Codon, Nonsense
Female
Frameshift Mutation
Fumarate Hydratase--genetics
Gene Deletion
Gene Rearrangement
Genotype
Germ-Line Mutation
Humans
INDEL Mutation
Kidney Neoplasms--genetics
Leiomyomatosis--congenital
Male
Middle Aged
Mutation
Mutation, Missense
Neoplastic Syndromes, Hereditary
Pedigree
Skin Neoplasms
Uterine Neoplasms