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- W2350367096 abstract "Objective To investigate pathogenic gene of autosomal dominant focal segmental glomerulosclerosis( AD-FSGS) . Methods Clinical data of an AD-FSGS family were collected and analyzed. Urine screening was given to all members of the family. Peripheral blood was taken from all members of the family. Sequencing of all exons of ACTN4,TRPC6 and INF2 and exon 8,9 of WT1 was performed for 7 members of the family. Changes in protein structure and function caused by mutant coding sequence were analyzed by online NCBI ( The National Center for Biotechnology Information) . Results The clinical feature of the family was consistent with characteristics of AD-FSGS. No pathogenic mutation in ACTN4,TRPC6 and WT1 was found. Five patients of the family had a deletion mutation ( c. 1249delCCCCACCCCCAC,p. T420 _ P423del) in INF2,which had not been reported before. This new mutation is located in the diaphanous inhibitory domain of the protein encoded by INF2. Conclusions c. 1249delCCCCACCCCCAC is a new mutation and may be the causal mutation of AD-FSGS in the family." @default.
- W2350367096 created "2016-06-24" @default.
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- W2350367096 date "2013-01-01" @default.
- W2350367096 modified "2023-09-25" @default.
- W2350367096 title "Clinical characteristics and INF2 gene mutation analysis in a family with autosomal dominant focal segmental glomerulosclerosis" @default.
- W2350367096 hasPublicationYear "2013" @default.
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