Linkage to a known gene but no mutation identified: comprehensive reanalysis ofSPG4 HSP pedigrees reveals large deletions as the sole cause-Reference-Cited by-同舟云学术

Linkage to a known gene but no mutation identified: comprehensive reanalysis ofSPG4 HSP pedigrees reveals large deletions as the sole cause

Published:2007 Issue:7 Volume:28 Page:739-740
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Beetz Christian,Zuchner Stephan,Ashley-Koch Allison,Auer-Grumbach Michaela,Byrne Paula,Chinnery Patrick F.,Hutchinson Michael,McDermott Christopher J.,Meijer Inge A.,Nygren Anders O.H.,Pericak-Vance Margaret,Pyle Angela,Rouleau Guy A.,Schickel Jörg,Shaw Pamela J.,Deufel Thomas

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference12 articles.

1. High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia

2. Hereditary spastic paraplegia

3. Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis

4. Phenotype of AD-HSP due to mutations in the SPAST gene: Comparison with AD-HSP without mutations

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