caa a22 4500 467984212 CHVBK 20180323112527.0 cr unu---uuuuu 170328e19900101xx s 000 0 eng 10.1007/BF00208923 doi (NATIONALLICENCE)springer-10.1007/BF00208923 Neurofibromatosis-1: a maximum likelihood estimation of mutation rate [Elektronische Daten] [Maurizio Clementi, Guido Barbujani, Licia Turolla, Romano Tenconi] Summary: 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 6.5×10-5 gametes per generation (95% CI 5.0-8.1). Springer-Verlag, 1990 Clementi Maurizio Servizio di Genetica Medica, Dipartimento di Pediatria, Università di Padova, Via Giustiniani, 3, I-35 128, Padova, Italy aut Barbujani Guido Dipartimento di Biologia, Università di Padova, Via Loredan, 10, I-35 100, Padova, Italy aut Turolla Licia Servizio di Genetica Medica, Dipartimento di Pediatria, Università di Padova, Via Giustiniani, 3, I-35 128, Padova, Italy aut Tenconi Romano Servizio di Genetica Medica, Dipartimento di Pediatria, Università di Padova, Via Giustiniani, 3, I-35 128, Padova, Italy aut Human Genetics Springer-Verlag 84/2(1990-01-01), 116-118 0340-6717 84:2<116 1990 84 439 https://doi.org/10.1007/BF00208923 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00208923 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Clementi Maurizio Servizio di Genetica Medica, Dipartimento di Pediatria, Università di Padova, Via Giustiniani, 3, I-35 128, Padova, Italy aut NATIONALLICENCE 700 1- Barbujani Guido Dipartimento di Biologia, Università di Padova, Via Loredan, 10, I-35 100, Padova, Italy aut NATIONALLICENCE 700 1- Turolla Licia Servizio di Genetica Medica, Dipartimento di Pediatria, Università di Padova, Via Giustiniani, 3, I-35 128, Padova, Italy aut NATIONALLICENCE 700 1- Tenconi Romano Servizio di Genetica Medica, Dipartimento di Pediatria, Università di Padova, Via Giustiniani, 3, I-35 128, Padova, Italy aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 84/2(1990-01-01), 116-118 0340-6717 84:2<116 1990 84 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer