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

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...

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Main Authors: Lan Zeng (Author), Qi-yan Wang (Author), Yi Deng (Author), Dan-ni Wang (Author), Shu-yao Zhu (Author), Jin Wang (Author)
Format: Book
Published: Editorial Department of Journal of Clinical Nephrology, 2024-10-01T00:00:00Z.
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