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Article

Mutation in noncoding RNA RNU12 causes early onset cerebellar ataxia.

Annals of neurology - 1 Jan 2017

Elsaid Mahmoud Fawzi, Chalhoub Nader, Ben-Omran Tawfeg, Kumar Pankaj, Kamel Hussein, Ibrahim Khalid, Mohamoud Yasmin, Al-Dous Eman, Al-Azwani Iman, Malek Joel A, Suhre Karsten, Ross M Elizabeth, Aleem Alice Abdel

Abstract excerpt

OBJECTIVE: Exome sequences account for only 2% of the genome and may overlook mutations causing disease. To obtain a more complete view, whole genome sequencing (WGS) was analyzed in a large consanguineous family in which members displayed autosomal recessively inherited cerebellar ataxia manifesting before 2 years of age. METHODS: WGS from blood-derived genomic DNA was used for homozygosity mapping and a rare...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 27863452
DOI: 10.1002/ana.24826

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