Genotype-Clinical Correlations in Polycystic Kidney Disease with No Apparent Family History
Sign Up to like & getrecommendations! Published in 2019 at "American Journal of Nephrology"
DOI: 10.1159/000497444
Abstract: Background: Genetic characteristics of polycystic kidney disease (PKD) patients without apparent family history were reported to be different from those with a positive family history. However, the clinical course of PKD patients with no apparent… read more here.
Keywords: family history; apparent family; family; pkd2 mutation ... See more keywords
Mutation Analysis of PKD1 and PKD2 Genes in a Large Italian Cohort Reveals Novel Pathogenic Variants Including A Novel Complex Rearrangement.
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DOI: 10.1159/000530657
Abstract: BACKGROUND Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited disease of the kidney. It occurs in adulthood but is also rarely diagnosed in early childhood. The majority of the disease-causing variants observed… read more here.
Keywords: disease; pkd1 pkd2; mutation analysis; pkd1 ... See more keywords
Detection of PKD1 and PKD2 Somatic Variants in Autosomal Dominant Polycystic Kidney Cyst Epithelial Cells by Whole-Genome Sequencing.
Sign Up to like & getrecommendations! Published in 2021 at "Journal of the American Society of Nephrology : JASN"
DOI: 10.1681/asn.2021050690
Abstract: Background: Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder characterized by the development of multiple cysts in the kidneys. It is often caused by pathogenic mutations in PKD1 and PKD2 genes that encode… read more here.
Keywords: pkd1 pkd2; kidney; dominant polycystic; autosomal dominant ... See more keywords
Mutational Screening of PKD1 and PKD2 Genes in Iranian Population Diagnosed with Autosomal Dominant Polycystic Kidney Disease.
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DOI: 10.7754/clin.lab.2017.170209
Abstract: BACKGROUND Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the fourth most frequent cause of endstage renal disease (ESDR), occurring at a varying frequency of 1/400 to 1/800 persons. The disease affects all ethnic groups worldwide,… read more here.
Keywords: pkd1; disease; pkd2 genes; autosomal dominant ... See more keywords