Algorithm for efficientPKHD1mutation screening in autosomal recessive polycystic kidney disease (ARPKD)
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference27 articles.
1. Analysis of chromosome 6p in Spanish families with recessive polycystic kidney disease;Alvarez;Pediatr Nephrol,2000
2. Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1);Bergmann;J Am Soc Nephrol,2003
3. PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD);Bergmann;Hum Mutat,2004
4. PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD);Bergmann;Hum Mutat,2004
5. Clinical consequences of PKHD1 mutations in 164 patients with autosomal recessive polycystic kidney disease (ARPKD);Bergmann;Kidney Int,2005
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1. A novel PKHD1 splicing variant identified in a fetus with autosomal recessive polycystic kidney disease;Frontiers in Genetics;2023-06-29
2. Adult presentations of variable kidney and liver phenotypes secondary to biallelic PKHD1 pathogenic variants;Journal of Rare Diseases;2023-01-02
3. The genetics of Autosomal Recessive Polycystic Kidney Disease (ARPKD);Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease;2022-04
4. Autosomal Recessive Polycystic Kidney Disease;Pediatric Nephrology;2022
5. Autosomal Recessive Polycystic Kidney Disease;Pediatric Nephrology;2021-11-30
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