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Irish Child Health Database - Peer Reviewed Papers

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Irish Child Health Database » » D » Diagnostic Techniques and Procedures/standards

Diagnostic Techniques and Procedures/standards

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  • 1.   Typical Friedreich's ataxia without GAA expansions and GAA expansion without typical Friedreich's ataxia

    The aim of this study was to examine clinically and performed polymerase chain reaction analysis for the GAA trinucleotide repeat expansion in families, with a prior clinical diagnosis of Friedreich's ataxia (FA) or an unclassified progressive ataxia

    J Neurol, Vol: 247 Page: 346-55 May 2000
    D. J. McCabe; F. Ryan; D. P. Moore; S. McQuaid; M. D. King; A. Kelly; K. Daly; D. E. Barton; R. P. Murphy

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