Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency.
Alam, N A
Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency. [electronic resource] - Human molecular genetics Jun 2003 - 1241-52 p. digital
Publication Type: Journal Article
0964-6906
10.1093/hmg/ddg148 doi
Amino Acid Metabolism, Inborn Errors--genetics
Amino Acid Sequence
Enzyme Stability
Female
Fumarate Hydratase--chemistry
Genetic Predisposition to Disease
Germ-Line Mutation
Humans
Kidney Neoplasms--genetics
Leiomyomatosis--genetics
Molecular Sequence Data
Mutation
Protein Conformation
RNA Stability
RNA, Messenger--metabolism
Sequence Homology, Amino Acid
Skin Neoplasms--genetics
Uterine Neoplasms--genetics
Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency. [electronic resource] - Human molecular genetics Jun 2003 - 1241-52 p. digital
Publication Type: Journal Article
0964-6906
10.1093/hmg/ddg148 doi
Amino Acid Metabolism, Inborn Errors--genetics
Amino Acid Sequence
Enzyme Stability
Female
Fumarate Hydratase--chemistry
Genetic Predisposition to Disease
Germ-Line Mutation
Humans
Kidney Neoplasms--genetics
Leiomyomatosis--genetics
Molecular Sequence Data
Mutation
Protein Conformation
RNA Stability
RNA, Messenger--metabolism
Sequence Homology, Amino Acid
Skin Neoplasms--genetics
Uterine Neoplasms--genetics