Mutations in the COL4A4 gene in thin basement membrane disease

Kidney International

Volumn 63, Issue 2, 2003, Pages 447-453

  Buzza, Mark ^a,b   Dagher, Hayat ^a,b   Wang, Yan Yan ^a,b   Wilson, Diane ^a,b   Babon, Jeffrey J ^a,b   Cotton, Richard G ^a,b   Savige, Judy ^a,b  

^a UNIVERSITY OF MELBOURNE   (Australia)

^b ST VINCENT S HOSPITAL   (Australia)

Author keywords

Benign familial hematuria; Dysmorphic red blood cells; Familial glomerulonephritis; Gene mutations; Hematuria; Heredity; R1377X mutation; S969X mutation

Indexed keywords

COLLAGEN TYPE 4; GLYCINE; ISOPROTEIN;

ADOLESCENT; ADULT; AGED; ALPORT SYNDROME; AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; FAMILIAL DISEASE; FAMILY HISTORY; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC SCREENING; HEMATURIA; HUMAN; HUMAN TISSUE; KIDNEY BIOPSY; MALE; PRIORITY JOURNAL; SCHOOL CHILD; SINGLE STRAND CONFORMATION POLYMORPHISM; STOP CODON; THIN BASEMENT MEMBRANE DISEASE;

EID: 0037248895     PISSN: 00852538     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1755.2003.00780.x     Document Type: Article

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