Familial Focal Segmental Glomerulosclerosis Associated With an ACTN4 Mutation and Paternal Germline Mosaicism

American Journal of Kidney Diseases

Volumn 51, Issue 5, 2008, Pages 834-838

  Choi, Hyun Jin ^a   Lee, Beom Hee ^a   Cho, Hee Yeon ^b   Moon, Kyung Chul ^c   Ha, Il Soo ^a   Nagata, Michio ^d   Choi, Yong ^a   Cheong, Hae Il ^a  

^a Seoul National University Children's Hospital   (South Korea)

^b Gachon University College of Medicine   (South Korea)

^c Seoul National University Hospital   (South Korea)

^d UNIVERSITY OF TSUKUBA   (Japan)

Author keywords

actinin 4; ACTN4 gene; collapsing glomerulopathy; Focal segmental glomerulosclerosis; germline mosaicism; nephrin; NPHS1 gene

Indexed keywords

NEPHRIN; PHENYLALANINE; SERINE;

ACTN4 GENE; ARTICLE; CASE REPORT; DISEASE ASSOCIATION; FAMILIAL DISEASE; FEMALE; FOCAL GLOMERULOSCLEROSIS; GENE MUTATION; GERM LINE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; KIDNEY BIOPSY; KIDNEY FAILURE; MALE; MOSAICISM; NEPHROTIC SYNDROME; PHENOTYPE; PODOCYTE; PRESCHOOL CHILD; PROTEINURIA; SIBLING;

ACTININ; CHILD, PRESCHOOL; FEMALE; GERM-LINE MUTATION; GLOMERULOSCLEROSIS, FOCAL SEGMENTAL; HUMANS; MALE; MICROFILAMENT PROTEINS; MOSAICISM; MUTATION;

EID: 43049085942     PISSN: 02726386     EISSN: None     Source Type: Journal    
DOI: 10.1053/j.ajkd.2008.01.018     Document Type: Article

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