Biologic Lessons from Mutations in the Kreb's Cycle Enzyme, Fumarate Hydratase

Journal of Investigative Dermatology

Volumn 121, Issue 4, 2003, Pages 7-

  McGrath, John A ^a  

^a KING'S COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

FUMARATE HYDRATASE;

CANCER SCREENING; CITRIC ACID CYCLE; CLINICAL FEATURE; CORRELATION ANALYSIS; ENZYME ACTIVITY; FAMILIAL DISEASE; FAMILY HISTORY; GENE MUTATION; GENETIC SCREENING; GENOTYPE; HUMAN; KIDNEY CARCINOMA; LEIOMYOMATOSIS; NOTE; ONSET AGE; PHENOTYPE; PREGNANCY; PRIORITY JOURNAL; SKIN DISEASE; UTERUS MYOMA;

EID: 0141956502     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1747.2003.12503.x     Document Type: Note

References (4)

1. Alam NA, Rowan AJ, Wortham NC, et al: Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency. Hum Mol Genet 12:1241-1242, 2003
2. Martinez-Mir A, Glaser B, Chuang G, et al: Germline Fumarate Hydratase Mutations in Families with Multiple Cutaneous and Uterine Leiomyomata. J Invest Dermatol, 121:741-744, 2003
3. Tomlinson IP, Alam NA, Rowan AJ, et al: Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. Nat Genet 30:406-410, 2002
4. Toro JR, Nickerson ML, Wei M-H, et al: Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in north America. Am J Hum Genet 73:95-106, 2003