KHA-CARI Autosomal Dominant Polycystic Kidney Disease Guideline: Genetic Testing for Diagnosis

被引:10
|
作者
Tchan, Michel [1 ,13 ]
Savige, Judy [2 ,14 ]
Patel, Chirag [3 ]
Mallett, Andrew [4 ,5 ,6 ,7 ]
Tong, Allison [8 ,9 ]
Tunnicliffe, David J. [8 ,10 ]
Rangan, Gopala K. [11 ,12 ]
机构
[1] Western Sydney Local Hlth Dist, Westmead Hosp, Dept Med Genet, Sydney, NSW, Australia
[2] Univ Melbourne, Dept Med, Melbourne Hlth & Northern Hlth, Melbourne, Vic, Australia
[3] Royal Brisbane & Womens Hospi, Genet Hlth Queensland, Brisbane, Qld, Australia
[4] Royal Brisbane & Womens Hosp, Kidney Hlth Serv, Brisbane, Qld, Australia
[5] Royal Brisbane & Womens Hosp, Conjoint Kidney Res Lab, Brisbane, Qld, Australia
[6] Univ Queensland, Ctr Chron Dis & CKD, Sch Med, Ctr Kidney Dis Res, Brisbane, Qld, Australia
[7] Univ Queensland, Inst Mol Biosci, Ctr Rare Dis Res, Brisbane, Qld, Australia
[8] Univ Sydney, Sydney Sch Publ Hlth, Sydney, NSW 2006, Australia
[9] Childrens Hosp Westmead, Ctr Kidney Res, Westmead, NSW, Australia
[10] Childrens Hosp Westmead, Ctr Kidney Res, KHA CARI Guidelines, Westmead, NSW, Australia
[11] Western Sydney Local Hlth Dist, Westmead Hosp, Dept Renal Med, Sydney, NSW, Australia
[12] Univ Sydney, Westmead Inst Med Res, Ctr Transplant & Renal Res, Sydney, NSW 2006, Australia
[13] Univ Sydney, Sydney Med Sch, Sydney, NSW 2006, Australia
[14] Royal Melbourne Hosp, Dept Nephrol, Parkville, Vic 3050, Australia
关键词
PKD1; GENE; ADPKD; MUTATIONS; POSITION;
D O I
10.1016/j.semnephrol.2015.10.007
中图分类号
R5 [内科学]; R69 [泌尿科学(泌尿生殖系疾病)];
学科分类号
1002 ; 100201 ;
摘要
[No abstract available]
引用
收藏
页码:545 / 549
页数:5
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