A novel LMX1B mutation in a family with end-stage renal disease of 'unknown cause'

Clinical Kidney Journal

Volumn 8, Issue 1, 2015, Pages 113-119

  Edwards, Noel ^a   Rice, Sarah J ^a   Raman, Shreya ^b   Hynes, Ann Marie ^a   Srivastava, Shalabh ^a   Moore, Iain ^c   Al Hamed, Mohamed ^a   Xu, Yaobo ^a   Santibanez Koref, Mauro ^a   Thwaites, David T ^a   Gale, Daniel P ^d   Sayer, John A ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b ROYAL VICTORIA INFIRMARY   (United Kingdom)

^c Royal Infirmary Sunderland   (United Kingdom)

^d ROYAL FREE HOSPITAL   (United Kingdom)

Author keywords

end stage renal disease; LMX1B; podocytopathy; proteinuria; transcription factor

Indexed keywords

CD2 ASSOCIATED PROTEIN; COLLAGEN TYPE 4; CREATININE; PODOCIN; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR LMX1B; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHROMOSOME 1; CHROMOSOME 9; CHRONIC KIDNEY DISEASE; CLINICAL ARTICLE; COMPUTER MODEL; CREATININE BLOOD LEVEL; DNA BINDING MOTIF; END STAGE RENAL DISEASE; EXOME; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC TRANSCRIPTION; GLOMERULUS BASEMENT MEMBRANE; GLOMERULUS FILTRATION RATE; HEMATURIA; HETEROZYGOSITY; HUMAN; KIDNEY BIOPSY; KIDNEY FUNCTION; LIMIT OF DETECTION; MISSENSE MUTATION; NAIL PATELLA SYNDROME; PHENOTYPE; PRIORITY JOURNAL; PROLIFERATIVE GLOMERULONEPHRITIS; PROTEINURIA; SINGLE NUCLEOTIDE POLYMORPHISM; UNITED KINGDOM;

EID: 84983169929     PISSN: 20488505     EISSN: 20488513     Source Type: Journal    
DOI: 10.1093/ckj/sfu129     Document Type: Article

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