Article
Mutation analysis of four Chinese families with pure hereditary spastic paraplegia: pseudo- X-linked dominant inheritance and male lethality due to a novel ATL1 mutation.
Genetics and molecular research : GMR - 23 Nov 2015
Zhao N, Sui Y, Li X F, Liu W, Lu Y P, Feng W H, Ma C, Wang Y W, Bao H X, Huang F, Wang H, Yi D X, Han W T, Jiang M
Abstract excerpt
We studied four Chinese families with pure hereditary spastic paraplegia (HSP) to investigate the clinical features and associated genetic mutations. Linkage analysis was performed for all families to map the disease locus onto autosomal chromosomes, and related loci involved in HSP on the X chromosome were also examined. Polymerase chain reaction (PCR) sequencing was used to detect gene mutations. To confirm the...
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