LMX1B mutation with residual transcriptional activity as a cause of isolated glomerulopathy

Nephrology Dialysis Transplantation

Volumn 29, Issue 1, 2014, Pages 81-88

  Isojima, Tsuyoshi ^a   Harita, Yutaka ^a   Furuyama, Masayuki ^b   Sugawara, Noriko ^b   Ishizuka, Kiyonobu ^b   Horita, Shigeru ^b   Kajiho, Yuko ^a   Miura, Kenichiro ^a   Igarashi, Takashi ^a   Hattori, Motoshi ^b   Kitanaka, Sachiko ^a  

^a UNIVERSITY OF TOKYO   (Japan)

^b TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

Author keywords

glomerulopathy; LMX1B; nail patella like renal disease; podocyte

Indexed keywords

CD2 ASSOCIATED PROTEIN; COLLAGEN TYPE 3; MUTANT PROTEIN;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CELL STRAIN COS1; CHILD; CONTROLLED STUDY; ELECTRON MICROSCOPY; FEMALE; GENE; GENETIC TRANSCRIPTION; GLOMERULOPATHY; GLOMERULUS BASEMENT MEMBRANE; HAPLOINSUFFICIENCY; HEMATURIA; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; IMMUNOHISTOLOGY; KIDNEY BIOPSY; LMX1B GENE; MISSENSE MUTATION; NAIL PATELLA LIKE RENAL DISEASE; NAIL PATELLA SYNDROME; PODOCYTE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEINURIA; SEQUENCE ANALYSIS;

GLOMERULOPATHY; LMX1B; NAIL-PATELLA LIKE RENAL DISEASE; PODOCYTE;

ANIMALS; CHILD; FEMALE; HUMANS; IMMUNOHISTOCHEMISTRY; KIDNEY; LIM-HOMEODOMAIN PROTEINS; MUTATION, MISSENSE; NAIL-PATELLA SYNDROME; NEPHRITIS, HEREDITARY; PODOCYTES; TRANSCRIPTION FACTORS;

EID: 84892777530     PISSN: 09310509     EISSN: 14602385     Source Type: Journal    
DOI: 10.1093/ndt/gft359     Document Type: Article

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