Hum Mutat. 2009 Jul;30(7):1037-42
Faruq M, Scaria V, Singh I, Tyagi S, Srivastava AK, Mukerji M.
Genomics and Molecular Medicine, Institute of Genomics and Integrative Biology-Council of Scientific and Industrial Research (IGIB-CSIR), Delhi, India.
Keyword: Repeat expansion, autosomal dominant cerebellar ataxias (ADCAs), spinocerebellar ataxias (SCAs), clinical classification, prevalence, phenotypic expression, ethnic groups, SCA-locus-specific variation database (LSVD), SCA1, SCA 2, SCA 3, SCA 6, SCA 7, SCA 8, SCA 12, SCA 17, Friedreich's ataxia [FRDA], dentatorubral-pallidoluysian atrophy [DRPLA]), Leiden Open (source) Variation Database (LOVD) software, clinical features, HGVS Nomenclature guidelines.
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