Le syndrome d'Alport à l'heure de la génétique moléculaire.
(1996) Academie Royale de Medecine de Belgique. Bulletin et Memoires — Vol. 151, n° 10-11, p. 447-52; discussion 452-3 (1996)
Files
No attached file found for this publication.
Details
- Authors
- 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.
- Affiliations
Citations
Pirson, Y. (1996). Le syndrome d’Alport à l’heure de la génétique moléculaire. Academie Royale de Medecine de Belgique. Bulletin et Memoires, 151(10-11), 447-52; discussion 452-3. https://hdl.handle.net/2078.5/85919 (Original work published 1996)