PKHD1 gene mutation analysis in two families of perinatal stage autosomal recessive polycystic kidney disease

• Main Authors: Lan Zeng (Author), Qi-yan Wang (Author), Yi Deng (Author), Dan-ni Wang (Author), Shu-yao Zhu (Author), Jin Wang (Author)
• פורמט: ספר
• יצא לאור: Editorial Department of Journal of Clinical Nephrology, 2024-10-01T00:00:00Z.
• נושאים: article
• גישה מקוונת: Connect to this object online.

Objective To analyze genetic variation in two cases of autosomal recessive polycystic kidney disease （ARPKD） and provide theoretical rationales for its early diagnosis， treatment， genetic counseling and prenatal diagnosis. Methods Fetal tissues and parental peripheral blood samples of two children w...