Variable renal phenotype in a family with an INF2 mutation

Pediatric Nephrology

Volumn 26, Issue 1, 2011, Pages 73-76

  Lee, Hyun Kyung ^a   Han, Kyoung Hee ^a   Jung, Yun Hye ^a   Kang, Hee Gyung ^a,b   Moon, Kyung Chul ^b,c   Ha, Il Soo ^a,c   Choi, Yong ^d   Cheong, Hae Il ^a,b,c  

^a Seoul National University   (South Korea)

^b Seoul National University Hospital   (South Korea)

^c Seoul National University College of Medicine   (South Korea)

^d Inje University College of Medicine   (South Korea)

Author keywords

Actin; Focal segmental glomerulosclerosis; Formin; INF2 gene; Phenotype

Indexed keywords

METHENAMINE; PROTEIN; ACTIN BINDING PROTEIN; INF2 PROTEIN, HUMAN;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CHILD; DISEASE COURSE; FAMILY STUDY; FOCAL GLOMERULOSCLEROSIS; GENE; GENE MUTATION; HUMAN; HUMAN TISSUE; IFN2 GENE; KIDNEY BIOPSY; MALE; NEPHROTIC SYNDROME; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FAMILY; PROTEINURIA; ADULT; FEMALE; GENETICS; HETEROZYGOTE; KIDNEY; METABOLISM; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; PODOCYTE; ULTRASTRUCTURE;

ADULT; CHILD; DNA MUTATIONAL ANALYSIS; FEMALE; GLOMERULOSCLEROSIS, FOCAL SEGMENTAL; HETEROZYGOTE; HUMANS; KIDNEY; MALE; MICROFILAMENT PROTEINS; MUTATION; PEDIGREE; PHENOTYPE; PODOCYTES; PROTEINURIA;

EID: 79952998622     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00467-010-1644-5     Document Type: Article

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