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. 1990 Jan;84(2):116-8.
doi: 10.1007/BF00208923.

Neurofibromatosis-1: a maximum likelihood estimation of mutation rate

M Clementi  1 , G Barbujani, L Turolla, R Tenconi
Affiliations

Neurofibromatosis-1: a maximum likelihood estimation of mutation rate

M Clementi et al. Hum Genet. 1990 Jan.

Abstract

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 Mendelian dominant gene was observed. A maximum likelihood estimate of the proportion of sporadic cases was obtained, and the mutation rate was estimated to be 6.5 x 10(-5) gametes per generation (95% CI 5.0-8.1).

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