Clinical and molecular studies in five Brazilian cases of Friedreich ataxia Avaliação clínica e molecular de cinco pacientes brasileiros com ataxia de Friedreich

Friedreich ataxia (FRDA), the most common autosomal recessive ataxia, is caused in 94% of cases by homozygous expansions of an unstable GAA repeat localised in intron 1 of the X25 gene. We have investigated this mutation in five Brazilian patients: four with typical FRDA findings and one patient wit...

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Principais autores:	IDA V.D. SCHWARTZ, LAURA B. JARDIM, ANA C.S. PUGA, SÉRGIO COCOZZA, SANDRA LEISTNER, LUCIANE C. LIMA
Format:	Artigo
Jezik:	Inglês
Izdano:	Thieme Revinter Publicações 1999-03-01
Serija:	Arquivos de Neuro-Psiquiatria
Teme:	ataxia de Friedreich ataxia cerebelar expansão instável de trinucleotídeos Friedreich ataxia cerebellar ataxia expansion of unstable repeats
Online dostop:	http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1999000100001
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