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10.1053/j.ackd.2014.06.001

http://scihub22266oqcxt.onion/10.1053/j.ackd.2014.06.001
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C4197186!4197186!25168831
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suck abstract from ncbi

pmid25168831      Adv+Chronic+Kidney+Dis 2014 ; 21 (5): 422-5
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  • Familial FSGS #MMPMID25168831
  • Pollak MR
  • Adv Chronic Kidney Dis 2014[Sep]; 21 (5): 422-5 PMID25168831show ga
  • FSGS and nephrotic syndrome can be caused by rare highly penetrant mutations in number of genes. FSGS can follow both recessive and dominant inheritance patterns. In general, recessive forms present early, while the autosomal dominant forms present in adolescence or adulthood. Many of the genes found to be mutated in FSGS and nephrotic syndrome patients encode proteins essential for normal podocyte structure and or function. An exception appears to be APOL1, which harbors common variants responsible for the high rate of FSGS and other nephropathies in people of recent African ancestry. Familial FSGS should be regarded as part of a spectrum of inherited glomerulopathies where the precise histologic presentation may depend on age of onset, function of the responsible gene and gene products, as well as other factors.
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