Exome sequencing found a novel homozygous deletion in ADCK3 gene involved in autosomal recessive spinocerebellar ataxia.
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DOI: 10.1016/j.gene.2019.05.016
Abstract: Autosomal recessive cerebellar ataxia is heterogeneous inherited neurodegenerative disorders with more than 70 involved genes. The development of next generation sequencing opens a new window in rapid diagnosis of such heterogeneous condition in medical genetics… read more here.
Keywords: novel homozygous; sequencing found; exome sequencing; found novel ... See more keywords