Collagen COL4A6: gene, protein and method of detecting collagen deficiency
US5731192A · kind A · utility
7Cited by
3References
8Claims
0Family size
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Key dates
| Filing date | Jun 23, 1995 |
| Grant date | Mar 24, 1998 |
| Priority date | — |
| Expiry date | Jun 23, 2015 |
Classification
- Technology area (CPC A)Human Necessities
- CPC primaryA61K38/00
- WIPO fieldPharmaceuticals
- WIPO sectorChemistry
Abstract
A type IV collagen polynucleotide molecule, COL4A6, encoding .alpha.6(IV) polypeptide molecule, is identified on the X chromosome and expressed particularly in basement membranes. Genetic alteration of COL4A6 is associated with Alport's syndrome, a disease of basement membranes. Assays which detect an alteration of collagen .alpha.6(IV), or the polynucleotide molecules encoding it, are useful in determining pathologies associated with Alport's syndrome.
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