Article
Mutations in the COL4A4 gene in thin basement membrane disease.
Kidney international - 1 Feb 2003
Buzza Mark, Dagher Hayat, Wang Yan Yan, Wilson Diane, Babon Jeffrey J, Cotton Richard G, Savige Judy
Abstract excerpt
BACKGROUND: Patients with thin basement membrane disease (TBMD) are often from families where hematuria segregates with the COL4A3 and COL4A4 genes. These genes also are affected in autosomal recessive Alport syndrome. The aim of this study was to demonstrate COL4A4 mutations in TBMD. METHODS: Forty-eight unrelated individuals with TBMD who had no family members with autosomal recessive Alport syndrome were...
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