Genetics of neurofibromatosis 1 in Japan: mutation rate and paternal age effect.

doi:10.1007/BF00220540

Back to search

Article

Genetics of neurofibromatosis 1 in Japan: mutation rate and paternal age effect.

Human genetics - 1 May 1992

Takano T, Kawashima T, Yamanouchi Y, Kitayama K, Baba T, Ueno K, Hamaguchi H

Abstract excerpt

We have performed formal genetic studies on 26 patients (14 males, 12 females) with neurofibromatosis 1 (von Recklinghausen's disease, NF1) in Japan. Family studies of 74 members of 18 kindreds revealed that 50% of the cases were caused by a new mutation; the mutation rate was assumed to be 7.3-1...

Topics

Age Factors
Asian People
Chromosomes, Human, Pair 17
Female
Genes, Neurofibromatosis 1
Genetic Linkage
Humans
Japan
Male
Maternal Age
Mutation
Neurofibromatosis 1
Paternal Age
Pedigree
Polymorphism, Restriction Fragment Length
Sex Ratio

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.