| Literature DB >> 9341882 |
S Huang1, H Li, W H Lo, C Fischer, F Vogel.
Abstract
The mutant in a family with autosomal-dominant spastic paresis in Northern Tibet was mapped by linkage analysis with several microsatellite markers to a gene locus at 14q11.2-q24.3, an area to which a few mutants leading to a condition with similar clinical signs have previously been mapped. The mutant observed in this pedigree probably arose de novo. Gene loci at 2p21-p24 and 15q, which have been found for other pedigrees with dominant spastic paresis, were excluded. The data in this pedigree do not contradict the hypothesis proposed by another group that there might be anticipation.Entities:
Mesh:
Year: 1997 PMID: 9341882 DOI: 10.1007/s004390050563
Source DB: PubMed Journal: Hum Genet ISSN: 0340-6717 Impact factor: 4.132