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Alport syndrome and diffuse leiomyomatosis: Deletions in the 5′ end of the COL4A5 collagen gene

✍ Scribed by Antignac, Corinne; Zhou, Jing; Sanak, Marek; Cochat, Pierre; Roussel, Bernard; Deschênes, Georges; Gros, Françoise; Knebelmann, Bertrand; Hors-Cayla, Marie-Claude; Tryggvason, Karl

Book ID
109882227
Publisher
Nature Publishing Group
Year
1992
Tongue
English
Weight
857 KB
Volume
42
Category
Article
ISSN
0085-2538

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Deletion spanning the 5′ ends of both th
Deletion spanning the 5′ ends of both the COL4A5 and COL4A6 genes in a patient with Alport's syndrome and leiomyomatosis
✍ Alessandra Renieri; Maria Teresa Bassi; Lucia Galli; Jing Zhou; Marisa Giani; Ma 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 290 KB

## Communicated by Sesgio Otrdenghi Alport's syndrome is characterized clinically by a nonimmune glomerulopathy, often accompanied by sensorineural hearing loss and lens abnormalities, frequently due to mutations in the COL4A5 gene.

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.