𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Dot-and-fleck retinopathy in Alport syndrome caused by a novel mutation in the COL4A5 gene

✍ Scribed by M.A Blasi; R Rinaldi; A Renieri; R Petrucci; C De Bernardo; M Bruttini; P Grammatico


Book ID
117017191
Publisher
Elsevier Science
Year
2000
Tongue
English
Weight
208 KB
Volume
130
Category
Article
ISSN
0002-9394

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Novel COL4A5, COL4A4, and COL4A3 mutatio
✍ Mato Nagel; Sylvia Nagorka; Oliver Gross πŸ“‚ Article πŸ“… 2005 πŸ› John Wiley and Sons 🌐 English βš– 78 KB

This study summarizes 47 novel mutations identified during routine molecular diagnostics for Alport syndrome. We detected 34 in COL4A5, the gene responsible for X-linked Alport syndrome, and 13 in COL4A3 and COL4A4, the genes responsible for autosomal recessive Alport syndrome. A high detection rate

Alport syndrome caused by a 5β€² deletion
✍ Alessandra Renieri; Marco Seri; Jeanne C. Myers; Taina Pihlajaniemi; Adalberto S πŸ“‚ Article πŸ“… 1992 πŸ› Springer 🌐 English βš– 295 KB

Fourteen Italian patients affected with X-linked Alport syndrome were analyzed by Southern blotting, using cDNA probes of the COL4A5 gene. One proband was shown to carry a large deletion (greater than 38 kb) that included the 5' part of the gene.

Detection of mutations in the COL4A5 gen
✍ Jens Michael Hertz; Inger Juncker; Ulf Persson; Gert Matthijs; JΓΆrg Schmidtke; M πŸ“‚ Article πŸ“… 2001 πŸ› John Wiley and Sons 🌐 English βš– 260 KB

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