Genotype–phenotype correlation in X-linked Alport syndrome patients carrying missense mutations in the collagenous domain of COL4A5
✍ Scribed by D Tsiakkis; M Pieri; P Koupepidou; P Demosthenous; K Panayidou; C Deltas
- Book ID
- 117948290
- Publisher
- John Wiley and Sons
- Year
- 2012
- Tongue
- English
- Weight
- 511 KB
- Volume
- 82
- Category
- Article
- ISSN
- 0009-9163
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📜 SIMILAR VOLUMES
A population of 35 Alport syndrome patients, defined by strict diagnostic criteria, was screened for mutations in 23 exons of the COL4A5 gene by SSCP analysis. Mobility shifts were observed in 12 out of 35 patients and were shown to represent genuine mutations. 9 of these were glycine substitutions
Alport syndrome is a progressive renal disease leading to chronic renal failure, which often is accompanied by sensorineural deafness and ophthalmological signs in the form of anterior lenticonus. The X-linked form of the disease is caused by mutations in the COL4A5 gene encoding the a5-chain of typ