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A Novel APTX Variant and Ataxia with Oculomotor Apraxia Type 1
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참고문헌 (5)
- Castellotti B, "Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients", Neurogenetics, 12, pp.193~201 (2011)
- Grimberg J, "A simple and efficient non-organic procedure for the isolation of genomic DNA from blood", Nucleic Acids Res, 17, pp.8390~ (1989)
- Zhang F, "Exome sequencing and functional analysis identifies a novel mutation in EXT1 gene that causes multiple osteochondromas", PLoS One, 8, pp.e72316~ (2013)
- Chang YF, "The nonsense-mediated decay RNA surveillance pathway", Annu Rev Biochem, 76, pp.51~74 (2007)
- Storey E, "Genetic cerebellar ataxias", Semin Neurol, 34, pp.280~292 (2014)
관련 논문AI추천
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