𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Alport syndrome caused by inversion of a 21

✍ Scribed by Jens Michael Hertz; Ulf Persson; Inger Juncker; Mårten Segelmark

Publisher
Springer
Year
2005
Tongue
English
Weight
301 KB
Volume
118
Category
Article
ISSN
0340-6717

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Alport syndrome caused by a 5′ deletion
Alport syndrome caused by a 5′ deletion within the COL4A5 gene
✍ Alessandra Renieri; Marco Seri; Jeanne C. Myers; Taina Pihlajaniemi; Adalberto S 📂 Article 📅 1992 🏛 Springer 🌐 English ⚖ 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.

Alport syndrome: a genetic study of 31 f
Alport syndrome: a genetic study of 31 families
✍ Rhida M'Rad; Marek Sanak; Georges Deschenes; Jing Zhou; Catherine Bonaiti-Pellie 📂 Article 📅 1992 🏛 Springer 🌐 English ⚖ 947 KB

Thirty one families with Alport syndrome including 3 families with associated syndromes were studied. The location of the COL4A5 gene, responsible for the Alport syndrome, was determined by linkage analysis with eight probes of the Xq arm and by a radiation hybrid panel. Concordant data indicated th