Single base mutation in the fumarate hydratase gene leading to segmental cutaneous leiomyomatosis.
Huter
Eva
E
Wortham
Noel C
NC
Hartschuh
Wolfgang
W
Enk
Alexander
A
Jappe
Uta
U
D000368:Aged; D004252:DNA Mutational Analysis; D005260:Female; D005649:Fumarate Hydratase / Q000235:genetics*; D006801:Humans; D018231:Leiomyomatosis / Q000235:genetics* / Q000473:pathology; D020125:Mutation, Missense; D012867:Skin / Q000473:pathology; D012878:Skin Neoplasms / Q000235:genetics* / Q000473:pathology
D005649:Fumarate Hydratase