Clinically relevant functional annotation of genotype.
作者信息
MacRae Calum A, Vasan Ramachandran S
机构信息
Cardiovascular Division, Brigham and Women's Hospital and Harvard Medical School Boston, MA.
出版信息
Circ Cardiovasc Genet. 2014 Feb;7(1):2-3. doi: 10.1161/CIRCGENETICS.114.000506.
Abstract
摘要
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本文引用的文献
1
Gene mutations versus clinically relevant phenotypes: lyso-Gb3 defines Fabry disease.基因突变与临床相关表型：溶血型Gb3可确诊法布里病。
Circ Cardiovasc Genet. 2014 Feb;7(1):8-16. doi: 10.1161/CIRCGENETICS.113.000249. Epub 2014 Jan 6.
2
Enzyme replacement therapy for Anderson-Fabry disease.安德森-法布里病的酶替代疗法。
Cochrane Database Syst Rev. 2013 Feb 28(2):CD006663. doi: 10.1002/14651858.CD006663.pub3.
3
A systematic survey of loss-of-function variants in human protein-coding genes.人类蛋白编码基因功能丧失变异的系统调查。
Science. 2012 Feb 17;335(6070):823-8. doi: 10.1126/science.1215040.
4
Interdisciplinary approach towards female patients with Fabry disease.对法布里病女性患者的跨学科治疗方法。
Eur J Clin Invest. 2012 Apr;42(4):455-62. doi: 10.1111/j.1365-2362.2011.02614.x. Epub 2011 Nov 3.
5
Fabry disease.法布里病。
Orphanet J Rare Dis. 2010 Nov 22;5:30. doi: 10.1186/1750-1172-5-30.
6
The Fabry cardiomyopathy: models for the cardiologist.法布瑞心肌病：心脏病学家的模型。
Annu Rev Med. 2011;62:59-67. doi: 10.1146/annurev-med-090910-085119.
7
Stem cell models of cardiac development and disease.心脏发育和疾病的干细胞模型。
Annu Rev Cell Dev Biol. 2010;26:667-87. doi: 10.1146/annurev-cellbio-100109-103948.
8
Missing heritability and strategies for finding the underlying causes of complex disease.复杂疾病遗传率缺失及其潜在病因的研究策略。
Nat Rev Genet. 2010 Jun;11(6):446-50. doi: 10.1038/nrg2809.
9
Association of common variants in NPPA and NPPB with circulating natriuretic peptides and blood pressure.NPPA和NPPB中的常见变异与循环利钠肽及血压的关联
Nat Genet. 2009 Mar;41(3):348-53. doi: 10.1038/ng.328. Epub 2009 Feb 15.
10
The inheritance of intermediate phenotypes for schizophrenia.精神分裂症中间型表型的遗传
Curr Opin Psychiatry. 2005 Mar;18(2):135-40. doi: 10.1097/00001504-200503000-00005.
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