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pro vyhledávání: '"D V K, Pantakani"'
Autor:
B. Wellek, A. Zibat, Simone M. Sauter, Ashraf U. Mannan, Sven Klimpe, U. Zechner, D. V. K. Pantakani, Moneef Shoukier
Publikováno v:
European Journal of Neurology. 18:99-105
Background: Mutations in the SPG4/SPAST gene are the most common cause for hereditary spastic paraplegia (HSP). The splice-site mutations make a significant contribution to HSP and account for 17.4% of all types of mutations and 30.8% of point mutati
Publikováno v:
Clinical Genetics. 73:268-272
The SPG4 gene is frequently mutated in autosomal dominant form of hereditary spastic paraplegia (HSP). We report that the compound heterozygous sequence variants S44L, a known polymorphism, and c.1687G>A, a novel mutation in SPG4 cause a severe form
Autor:
S, Klimpe, A, Zibat, U, Zechner, B, Wellek, M, Shoukier, S M, Sauter, D V K, Pantakani, A U, Mannan
Publikováno v:
European journal of neurology. 18(1)
mutations in the SPG4/SPAST gene are the most common cause for hereditary spastic paraplegia (HSP). The splice-site mutations make a significant contribution to HSP and account for 17.4% of all types of mutations and 30.8% of point mutations in the S