[1] |
Alport综合征诊断共识专家组.Alport综合征诊断和治疗专家推荐意见[J].中华肾脏病杂志, 2018, 34(3):227. doi: 10.3760/cma.j.issn.1001-7097.2018.03.014 |
[2] |
ANKER MC, ARNEMANN J, NEUMANN K, et al Alport syndrome with diffuse leiomyomatosis[J].Am J Med Genet A, 2013, 119A(3):381. |
[3] |
何威, 夏正坤, 高春林.常见遗传性肾小球疾病的研究进展[J].医学研究生学报, 2015, 28(3):308. doi: 10.3969/j.issn.1008-8199.2015.03.021 |
[4] |
MAZIERS N, DAHAN K, PIRSON Y.From Alport syndrome to benign familial hematuria:clinical and genetic aspect[J].Nephrol Ther, 2005, 1(2):90. doi: 10.1016/j.nephro.2005.03.005 |
[5] |
ZHAO C, WANG F, ZHANG Y, et al.A novel splice site mutation in the COL4A5 gene in a Chinese female patient with rare ocular abnormalities[J].Mol Vis, 2012, 18(8):2205. |
[6] |
RICHARDS S, AZIZ N, BALE S, et al.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[J].Genet Med, 2015, 17(5):405. doi: 10.1038/gim.2015.30 |
[7] |
WANG Q, LIU F, XING Y, et al.Mutation c.359_363delGTATTinsATAC in the COL4A5 causes alport syndrome in a Chinese family[J].Gene, 2013, 512(2):482. doi: 10.1016/j.gene.2012.10.014 |
[8] |
王芳.Alport综合征的实验室检查[J].中华检验医学杂志, 2017, 40, (8):560. doi: 10.3760/cma.j.issn.1009-9158.2017.08.002 |