PMID: 2112607May 1, 1990Paper

Segregation analysis of peripheral neurofibromatosis (NF1)

Journal of Medical Genetics
M Littler, N E Morton

Abstract

Four studies of NF1 support a prevalence of 0.0003 and a carrier incidence at birth of 0.0004. The gene frequency (q) is therefore 0.0002, and the proportion of cases owing to fresh mutation is 0.56. The mutation rate (xq) is 10(-4), an unusually high value suggestive of a large gene. Penetrance among subjects examined is virtually complete, and there is no evidence of phenocopies or somatic mutations.

References

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Citations

May 28, 2010·European Spine Journal : Official Publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society·Wael Koptan, Yasser ElMiligui
Apr 8, 2009·Current Neurology and Neuroscience Reports·Kaleb Yohay
Dec 27, 2013·Nature Neuroscience·Alan E RentonBryan J Traynor
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Mar 15, 2006·The Neurologist·Kaleb Yohay
Jan 11, 2000·Journal of Medical Genetics·J SzudekJ M Friedman
Feb 27, 2010·American Journal of Medical Genetics. Part a·Lee KaplanJames F Gusella
Apr 23, 2008·Pathology·Nicola WayteSunil R Lakhani
Dec 6, 2008·Surgical Oncology Clinics of North America·Colin M ParsonsVijay P Khatri
Jul 5, 2006·Seminars in Pediatric Neurology·Kaleb H Yohay
Dec 31, 2005·Neurosurgery·Oren N GottfriedWilliam T Couldwell
Mar 18, 2006·The International Journal of Lower Extremity Wounds·Arcot Rekha, T R Gopalan
Dec 1, 1994·American Journal of Medical Genetics·S ElyakimD Abeliovich
Apr 5, 2007·Acta neurochirurgica·A M AlarajB Roitberg
Dec 7, 2000·Genetic Epidemiology·J SzudekJ M Friedman
Dec 6, 2017·Molecular Autism·Anna May KolesnikUNKNOWN EDEN-BASIS Team+
Mar 1, 1995·The Journal of Dermatology·Y Imaizumi
Aug 2, 2005·American Journal of Medical Genetics. Part a·Tsz Kin Bernard Lee, J M Friedman
Apr 29, 2020·Journal of Pediatric Orthopedics·Ryoji TauchiUNKNOWN NPO Japan Spinal Deformity Institute
Aug 31, 2021·JAMA Neurology·Janel O JohnsonElisabetta Zucchi

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