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
- 2021.11
- 수록면
- 604 - 607 (4page)
- DOI
- 10.3343/alm.2021.41.6.604
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참고문헌 (10)
참고문헌 신청
Savarese M / 2016 / Increasing role of titin mutations in neuromuscular disorders / J Neuromuscul Dis 3:293~308
Bang ML / 2001 / The complete gene sequence of titin, expression of an unusual approximately 700-kDa titin isoform, and its interaction with obscurin identify a novel Z-line to I-band linking system / Circ Res 89:1065~1072
Pfeffer G / 2014 / GeneReviews® / University of Washington, Seattle
Palmio J / 2019 / Expanding the importance of HMERF titinopathy: new mutations and clinical aspects / J Neurol 266:680~690
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
Bang ML / 2001 / The complete gene sequence of titin, expression of an unusual approximately 700-kDa titin isoform, and its interaction with obscurin identify a novel Z-line to I-band linking system / Circ Res 89:1065~1072
Pfeffer G / 2014 / GeneReviews® / University of Washington, Seattle
Palmio J / 2019 / Expanding the importance of HMERF titinopathy: new mutations and clinical aspects / J Neurol 266:680~690
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
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