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SNP Analysis and Whole Exome Sequencing: Their Application in the Analysis of a Consanguineous Pedigree Segregating Ataxia

Autosomal recessive cerebellar ataxia encompasses a large and heterogeneous group of neurodegenerative disorders. We employed single nucleotide polymorphism (SNP) analysis and whole exome sequencing to investigate a consanguineous Maori pedigree segregating ataxia. We identified a novel mutation in...

詳細記述

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書誌詳細
出版年:Microarrays (Basel)
主要な著者: Nickerson, Sarah L., Marquis-Nicholson, Renate, Claxton, Karen, Ashton, Fern, Leong, Ivone U. S., Prosser, Debra O., Love, Jennifer M., George, Alice M., Taylor, Graham, Wilson, Callum, McKinlay Gardner, R. J., Love, Donald R.
フォーマット: Artigo
言語:Inglês
出版事項: MDPI 2015
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC4996410/
https://ncbi.nlm.nih.gov/pubmed/27600236
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/microarrays4040490
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