Associated Papers
Truncating PKHD1 and PKD2 mutations alter energy metabolism.
Chumley P et al.
American Journal of Physiology. Renal Physiology, 2019
Ultrasound findings provide clues to investigate founder mutations expressed as runs of homozygosity in chromosomal microarray studies.
Daum H et al.
Prenatal Diagnosis, 2018
Mutations in multiple PKD genes may explain early and severe polycystic kidney disease.
Bergmann C et al.
Journal of the American Society of Nephrology : Jasn, 2011
PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis.
Gunay-Aygun M et al.
Molecular Genetics and Metabolism, 2010
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