Article
Rapid DNA-based prenatal diagnosis by genetic linkage in three families with Alport's syndrome.
American journal of kidney diseases : the official journal of the National Kidney Foundation - 1 Aug 1997
Turco A E, Bresin E, Rossetti S, Peterlin B, Morandi R, Pignatti P F
Abstract excerpt
Alport's syndrome (AS) is a clinically and genetically heterogeneous progressive inherited glomerulonephritis characterized by hematuria, sensorineural hearing loss, ocular lesions, and specific alterations of the glomerular basement membrane. Typically, AS shows an X-linked dominant pattern of inheritance, with mutations affecting the collagen type IV alpha5 chain gene (COL4A5) at Xq22. Rarely, AS is caused in...
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