| Literature DB >> 1789292 |
V P Johnson1, N J Carpenter, K A Kelts.
Abstract
We describe a 5-generation family of 6 individuals with Pelizaeus-Merzbacher disease, Type I. DNA linkage study was done to establish carrier status. Two loci, DXS162 and DXYS1, were informative in this family for carrier determination. The highest lod score is that for PMD-DXYS1 (Z = 1.421 at theta = 0). The carrier probability can only be defined as likely or unlikely in the absence of an established recombination frequency.Entities:
Mesh：
Substances：
Year: 1991 PMID： 1789292 DOI： 10.1002/ajmg.1320410318
Source DB: PubMed Journal: Am J Med Genet ISSN： 0148-7299