본문 바로가기
KERD
논문KCI 등재

A Novel APTX Variant and Ataxia with Oculomotor Apraxia Type 1

1

조회

0

다운로드

0

인용

0

참고문헌

참고문헌 (5)

  1. 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)
  2. Grimberg J, "A simple and efficient non-organic procedure for the isolation of genomic DNA from blood", Nucleic Acids Res, 17, pp.8390~ (1989)
  3. Zhang F, "Exome sequencing and functional analysis identifies a novel mutation in EXT1 gene that causes multiple osteochondromas", PLoS One, 8, pp.e72316~ (2013)
  4. Chang YF, "The nonsense-mediated decay RNA surveillance pathway", Annu Rev Biochem, 76, pp.51~74 (2007)
  5. Storey E, "Genetic cerebellar ataxias", Semin Neurol, 34, pp.280~292 (2014)

관련 논문AI추천

이 간행물의 다른 논문 (18건)