| Autor: |
Barker DF; Department of Medical Informatics, University of Utah School of Medicine, Salt Lake City 84132., Hostikka SL, Zhou J, Chow LT, Oliphant AR, Gerken SC, Gregory MC, Skolnick MH, Atkin CL, Tryggvason K |
| Jazyk: |
angličtina |
| Zdroj: |
Science (New York, N.Y.) [Science] 1990 Jun 08; Vol. 248 (4960), pp. 1224-7. |
| DOI: |
10.1126/science.2349482 |
| Abstrakt: |
X-linked Alport syndrome is a hereditary glomerulonephritis in which progressive loss of kidney function is often accompanied by progressive loss of hearing. Ultrastructural defects in glomerular basement membranes (GBM) of Alport syndrome patients implicate an altered structural protein as the cause of nephritis. The product of COL4A5, the alpha 5(IV) collagen chain, is a specific component of GBM within the kidney, and the gene maps to the same X chromosomal region as does Alport syndrome. Three structural aberrations were found in COL4A5, in intragenic deletion, a Pst I site variant, and an uncharacterized abnormality, which appear to cause nephritis and deafness, with allele-specific severity, in three Alport syndrome kindreds in Utah. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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