A novel TRPC6 mutation in a family with podocytopathy and clinical variability

BMC Nephrology

Volumn 14, Issue 1, 2013, Pages

  Mottl, Amy K ^a   Lu, Mei ^a   Fine, Catherine A ^a   Weck, Karen E ^a  

^a UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

Author keywords

Focal segmental glomerulosclerosis; Genetic testing; Genotype phenotype correlation; Minimal change disease; Proteinuria; TRPC6

Indexed keywords

CREATININE; PROTEIN; TRANSIENT RECEPTOR POTENTIAL CHANNEL 6;

ADULT; ARTICLE; CASE REPORT; DISEASE COURSE; FEMALE; FRAMESHIFT MUTATION; GENETIC HETEROGENEITY; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; KIDNEY BIOPSY; KIDNEY FAILURE; PREGNANCY DISORDER; PROTEIN URINE LEVEL; PROTEINURIA; THIRD TRIMESTER PREGNANCY;

ADULT; FEMALE; FRAMESHIFT MUTATION; HUMANS; KIDNEY FAILURE, CHRONIC; MALE; PEDIGREE; PODOCYTES; TRPC CATION CHANNELS;

EID: 84877263353     PISSN: None     EISSN: 14712369     Source Type: Journal    
DOI: 10.1186/1471-2369-14-104     Document Type: Article

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