A New Locus for Autosomal Dominant “Pure” Hereditary Spastic Paraplegia Mapping to Chromosome 12q13, and Evidence for Further Genetic Heterogeneity
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics
Reference38 articles.
1. Modulation of non-templated nucleotide addition by Taq DNA polymerase: primer modifications that facilitate genotyping;Brownstein;Biotechniques,1996
2. Autosomal dominant spastic paraplegia with anticipation maps to a 4-cM interval on chromosome 2p21-2p24 in a large German family;Bürger;Hum Genet,1996
3. Refined genetic mapping and proteolipid protein mutation analysis in X-linked pure hereditary spastic paraplegia;Cambi;Neurology,1996
4. Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease;Casari;Cell,1998
5. Pure familial spastic paraplegia: clinical and genetic analysis of nine Belgian pedigrees;De Jonghe;Eur J Hum Genet,1996
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