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Spinocerebellar Ataxia With a Novel Chromosomal Defect: Del 5q34 - A case report
Spinocerebellar ataxia inherited and cytogenetic study
2009/6/23
Spinocerebellar ataxias (SCA) are inherited through autosomal dominant, autosomal recessive, and X-linked patterns, and may be seen sporadically (1-4). Cerebellar findings are the main clinical charac...
ATM Gene Mutations Detection in Iranian Ataxia-Telangiectasia Patients
ToAtaxia-Telangiectasia Gene Mutations
2010/2/1
Ataxia-Telangiectasia (AT) is an autosomal recessive disorder involving cerebellar degeneration, immunodeficiency, radiation sensitivity and cancer predisposition. The ATM gene on human chromosome 11q...