Co-segregation of candidate polymorphism rs201204878 of the
PKD1
PKD2
autosomal dominant polycystic kidney disease
end-stage renal disease
next-generation sequencing
novel variant
polycystic kidney disease
Journal
Experimental and therapeutic medicine
ISSN: 1792-0981
Titre abrégé: Exp Ther Med
Pays: Greece
ID NLM: 101531947
Informations de publication
Date de publication:
Aug 2019
Aug 2019
Historique:
received:
21
02
2017
accepted:
01
09
2018
entrez:
7
8
2019
pubmed:
7
8
2019
medline:
7
8
2019
Statut:
ppublish
Résumé
Autosomal dominant polycystic kidney disease (ADPKD) is the fourth most common cause of end-stage renal disease, occurring at a frequency of 1 in 400 to 1 in 800 individuals among different populations. The disease affects all ethnic groups worldwide, and there is a requirement for population-based studies to be conducted in order to improve diagnosis, genetic counseling and treatment. A large Iranian family with ADPKD was recruited for the current study. Clinical evaluation was performed to diagnose and assess disease progression in 11 members of this family, including 7 affected members and 4 unaffected members.
Identifiants
pubmed: 31384335
doi: 10.3892/etm.2019.7693
pii: ETM-0-0-7693
pmc: PMC6639980
doi:
Types de publication
Journal Article
Langues
eng
Pagination
1345-1349Références
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