Neurofibromatosis type 1 due to germ-line mosaicism in a clinically normal father.

doi:10.1056/NEJM199411243312102

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Article

Neurofibromatosis type 1 due to germ-line mosaicism in a clinically normal father.

The New England journal of medicine - 24 Nov 1994

Lázaro C, Ravella A, Gaona A, Volpini V, Estivill X

Abstract excerpt

BACKGROUND: The mutation rate of the neurofibromatosis type 1 (NF1) gene is one of the highest in the human genome, with about 50 percent of cases being due to new mutations. We describe a family in which neurofibromatosis type 1 occurred in two siblings with clinically normal parents, and we dem...

Topics

Alleles
DNA
Female
Gene Deletion
Genes, Neurofibromatosis 1
Germ-Line Mutation
Humans
Male
Mosaicism
Neurofibromatosis 1
Polymerase Chain Reaction
Spermatozoa

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