دورية
Identification of a new mutation in the alpha4(IV) collagen gene in a family with autosomal dominant Alport syndrome and hypercholesterolaemia.
| العنوان: | Identification of a new mutation in the alpha4(IV) collagen gene in a family with autosomal dominant Alport syndrome and hypercholesterolaemia. |
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| المؤلفون: | Ciccarese, M, Casu, D, Ki Wong, F, Faedda, R, Arvidsson, S, Tonolo, G, Luthman, H, Satta, A |
| المصدر: | Nephrology Dialysis Transplantation; October 2001, Vol. 16 Issue: 10 p2008-2012, 5p |
| مستخلص: | Alport syndrome (AS) is a hereditary disease of the glomerular basement membrane in the kidney characterized by progressive renal failure, sensorineural deafness, and/or ocular abnormalities. In contrast to the well-known X-linked phenotype, very little is known about the autosomal dominant form. Rare autosomal forms of AS have been described with mutations in COL4A3 and COL4A4 at chromosome region 2q35-q37, but there have been no descriptions of dominant forms due to a mutation in COL4A4. |
| قاعدة البيانات: | Supplemental Index |
Full Text Finder | تدمد: | 09310509 14602385 |
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| DOI: | 10.1093/ndt/16.10.2008 |