Article
Neurofibromatosis-1: a maximum likelihood estimation of mutation rate.
Human genetics - 1 Jan 1990
Clementi M, Barbujani G, Turolla L, Tenconi R
Abstract excerpt
Methods of classical segregation analysis were applied to a sample of 129 sibships with one or more individuals affected by neurofibromatosis-1 (NF-1). The sample consists only of subjects with NF-1; all the probands had been referred for genetic counselling because of café-au-lait spots, and a diagnostic protocol was invariably applied. No deviation from the segregation ratio expected for a fully penetrant...
Topics
- Adult
- Child
- Female
- Humans
- Likelihood Functions
- Male
- Mutation
- Neurofibromatosis 1