Mutations in the INF2 gene account for a significant proportion of familial but not sporadic focal and segmental glomerulosclerosis

Kidney International

Volumn 83, Issue 2, 2013, Pages 316-322

  Barua, Moumita ^a   Brown, Elizabeth J ^a,b   Charoonratana, Victoria T ^a,b   Genovese, Giulio ^a   Sun, Hua ^a   Pollak, Martin R ^a  

^a BETH ISRAEL DEACONESS MEDICAL CENTER   (United States)

^b BOSTON CHILDREN S HOSPITAL   (United States)

Author keywords

familial FSGS; FSGS; INF2; mutations; nephrotic syndrome; sporadic cases

Indexed keywords

ALBUMIN; ALPHA ACTININ 4; CD2 ASSOCIATED PROTEIN; CREATININE; TRANSIENT RECEPTOR POTENTIAL CHANNEL 6;

ADOLESCENT; ADULT; AGED; ALBUMIN BLOOD LEVEL; ALPHA ACTININ 4 GENE; ARTICLE; CD2AP GENE; COHORT ANALYSIS; CREATININE URINE LEVEL; DISEASE ASSOCIATION; DNA SEQUENCE; ERYTHROCYTE SEDIMENTATION RATE; EXON; FEMALE; FOCAL GLOMERULOSCLEROSIS; GENE; GENETIC VARIABILITY; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; INVERTED FORMIN 2 GENE; KIDNEY FAILURE; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; ONSET AGE; PATHOGENESIS; PRIORITY JOURNAL; TRPC6 GENE;

EID: 84873411608     PISSN: 00852538     EISSN: 15231755     Source Type: Journal    
DOI: 10.1038/ki.2012.349     Document Type: Article

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