Article
[Friedreich's disease: a real spectrum of clinical manifestations in terms of direct DNA diagnosis].
Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova - 1 Jan 1999
Illarioshkin S N, Drizuna E B, Bagieva G Kh, Markova E D, Miklina N I, Ovchinnikov I V, Ivanova-Smolenskaia I A
Abstract excerpt
Friedreich's disease (FD) is autosomal-recessive form of hereditary ataxias conditioned by expansion of the trinucleotide GAA-repetitions in a new X25 gene. The study was performed in 20 patients from 13 families of different ethnic origin (Slavs, Turkmen, Moldavians, etc) with a suspicion to FD...
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