지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2020.1
- 수록면
- 333 - 335 (3page)
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참고문헌 (8)
참고문헌 신청
Vermeer S / 2010 / Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia / Am J Hum Genet 87:813~819
Maruyama H / 2014 / Exome sequencing reveals a novel ANO10 mutation in a Japanese patient with autosomal recessive spinocerebellar ataxia / Clin Genet 85:296~297
Wanitchakool P / 2017 / Cellular defects by deletion of ANO10 are due to deregulated local calcium signaling / Cell Signal 30:41~49
Richards S / 2015 / Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for molecular pathology / Genet Med 17:405~424
Nanetti L / 2019 / ANO10 mutational screening in recessive ataxia : genetic findings and refinement of the clinical phenotype / J Neurol 266:378~385
Maruyama H / 2014 / Exome sequencing reveals a novel ANO10 mutation in a Japanese patient with autosomal recessive spinocerebellar ataxia / Clin Genet 85:296~297
Wanitchakool P / 2017 / Cellular defects by deletion of ANO10 are due to deregulated local calcium signaling / Cell Signal 30:41~49
Richards S / 2015 / Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for molecular pathology / Genet Med 17:405~424
Nanetti L / 2019 / ANO10 mutational screening in recessive ataxia : genetic findings and refinement of the clinical phenotype / J Neurol 266:378~385
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