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
- 2019.1
- 수록면
- 464 - 467 (4page)
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참고문헌 (4)
참고문헌 신청
Thurberg BL / 2009 / Cardiac microvascular pathology in Fabry disease : evaluation of endomyocardial biopsies before and after enzyme replacement therapy / Circulation 119:2561~2567
Lek M / 2016 / Analysis of protein-coding genetic variation in 60, 706 humans / Nature 536:285~291
Lukas J / 2016 / Functional and clinical consequences of novel α-galactosidase A mutations in Fabry disease / Hum Mutat 37:43~51
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
Lek M / 2016 / Analysis of protein-coding genetic variation in 60, 706 humans / Nature 536:285~291
Lukas J / 2016 / Functional and clinical consequences of novel α-galactosidase A mutations in Fabry disease / Hum Mutat 37:43~51
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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