Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia pat...
Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient
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Publisher
England: BioMed Central Ltd
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Language
English
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Publisher
England: BioMed Central Ltd
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Contents
Spinocerebellar ataxias (SCAs) are heterogeneous diseases characterized by progressive cerebellar ataxia associated with dysarthria, oculomotor abnormalities, and mental impairment. To identify the causative gene, we performed exome sequencing on a Japanese patient clinically diagnosed with recessive SCA.
The patient is a 37-year-old Japanese wo...
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Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3890717
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3890717
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ISSN
1471-2377
E-ISSN
1471-2377
DOI
10.1186/1471-2377-14-5
