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CNKI学位论文(22)
知网期刊论文(7)
在“
SpringerLink电子期刊
”中,
命中:
2
条,耗时:小于0.01 秒
在所有数据库中总计命中:
29
条
1.
Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease
作者:
Lena
Obeid
ova
;
Tomas Seeman
;
Veronika Elisakova
;
Jana Reiterova…
关键词:
Autosomal recessive polycystic kidney disease
;
ARPKD
;
PKHD1
;
Mutation analysis
;
Next
;
generation sequencing
刊名:BMC Medical Genetics
出版年:2015
2.
Novel mutations of PKD genes in the Czech population with autosomal dominant polycystic kidney disease
作者:
Lena
Obeid
ova (1)
Veronika Elisakova (1)
Jitka Stekrova (1)
Jana Reiterova (2)
Miroslav Merta (1)
Vladimir Tesar (2)
Frantisek Losan (3)
Milada Kohoutova (1)
1. Institute of Biology and Medical Genetics of the First Faculty of Medicine and General University Hospital
;
Albertov 4
;
128 00
;
Prague
;
Czech Republic
2. Department of Nephrology of the First Faculty of Medicine and General University Hospital
;
U Nemocnice 2
;
128 08
;
Prague
;
Czech Republic
3. Genetika Plze艌
;
s.r.o.
;
Parkov谩 1254/11a
;
326 00
;
Plze艌-膶ernice
;
Czech Republic
关键词:
ADPKD
;
PKD gene
;
Mutational analysis
;
Mutation
;
HRM
;
MLPA
;
Polycystic kidney disease
刊名:BMC Medical Genetics
出版年:2014
1
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