Triplet Repeat Primed PCR (TP PCR) in Molecular Diagnostic Testing for Friedreich Ataxia
Author:
Publisher
Elsevier BV
Subject
Molecular Medicine,Pathology and Forensic Medicine
Reference20 articles.
1. Molecular genetics and pathogenesis of Friedreich ataxia;Pandolfo;Neuromuscul Disord,1998
2. Friedreich's ataxia in Western Norway;Skre;Clin Genet,1975
3. Intrafamilial correlation in Friedreich's ataxia;Winter;Clin Genet,1981
4. Prevalence of hereditary ataxias and spastic paraplegias in Molise, a region of Italy;Filla;J Neurol,1992
5. Differential stability of the (GAA)n tract in the Friedreich ataxia (STM7) gene;Epplen;Hum Genet,1997
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