Chaido Koumanzeli
Neonatal Intensive Care Unit, 2nd Department of Pediatrics, Athens University Medical School, 'P. & A. Kyriakou' Children’s Hospital of Athens, Athens, Greece.
[ 1 ] - Identification of a Novel Intragenic Deletion of the PHKD1 Gene in a Patient with Autosomal Recessive Polycystic Kidney Disease
Background Autosomal recessive polycystic kidney disease (ARPKD) is caused by mutations in the PKHD1gene. In the present study, we describe a severe case of ARPKD carrying a point mutation and a novel four-exon deletion of PKHD1 gene. Materials and Methods The PKHD1, PKD1 and PKD2 ...
نویسندگان همکار