共 50 条
- [44] PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD): Genotype-phenotype correlations from a series of 308 cases to improve prenatal counselling NEPHROLOGIE & THERAPEUTIQUE, 2018, 14 (06): : 474 - 477
- [45] Homozygous Missense Mutation on Exon 22 of PKHD1 Gene Causing Fatal Autosomal Recessive Polycystic Kidney Disease JOURNAL OF CHILD SCIENCE, 2021, 11 (01): : E70 - E73
- [48] Atmin modulates Pkhd1 expression and may mediate Autosomal Recessive Polycystic Kidney Disease (ARPKD) through altered non-canonical Wnt/Planar Cell Polarity (PCP) signalling BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, 2019, 1865 (02): : 378 - 390
- [49] Clinical features of autosomal recessive polycystic kidney disease in the Japanese population and analysis of splicing in PKHD1 gene for determination of phenotypes Clinical and Experimental Nephrology, 2022, 26 : 140 - 153