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  • Title: [Alport syndrome in the light of current molecular genetics].
    Author: Pirson Y.
    Journal: Bull Mem Acad R Med Belg; 1996; 151(10-11):447-52; discussion 452-3. PubMed ID: 9491622.
    Abstract:
    Alport syndrome is a hereditary nephropathy, inconstantly associated with sensorineural deafness and ocular abnormalities. These manifestations result from a structural defect in type IV collagen. Recent genetic advances have provided a molecular basis for the two main subsets of the disease, namely the X-linked and the autosomal recessive forms. It has just been shown that the autosomal dominant entity known as benign familial haematuria is actually due to a heterozygote mutation of the gene accounting for the autosomal recessive form of Alport syndrome. The genetic breakthrough has already clinical and pathophysiological implications.
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