𝔖 Bobbio Scriptorium
✦   LIBER   ✦

COL4A5 splice site mutation and α5(IV) collagen mRNA in Alport syndrome

✍ Scribed by Netzer, Kai-Olaf; Pullig, Oliver; Frei, Ulrich; Zhou, Jing; Tryggvason, Karl; Weber, Manfred

Book ID
109882610
Publisher
Nature Publishing Group
Year
1993
Tongue
English
Weight
844 KB
Volume
43
Category
Article
ISSN
0085-2538

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Novel COL4A5, COL4A4, and COL4A3 mutatio
Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome
✍ Mato Nagel; Sylvia Nagorka; Oliver Gross 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 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

Spectrum of COL4A5 mutations in Finnish
Spectrum of COL4A5 mutations in Finnish Alport syndrome patients
✍ Paula Martin; Niina Heiskari; Heli Pajari; Carola Grönhagen-Riska; Helena Kääriä 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 76 KB 👁 1 views

Alport syndrome (AS) is a hereditary kidney disorder, mainly caused by mutations in the Xchromosomal gene (COL4A5) encoding the type IV collagen α α5 chain. In this study, detection of COL4A5 mutations was performed in 17 Finnish Alport syndrome families. Regions around the 51 previously known exons

Detection of mutations in COL4A5 in pati
Detection of mutations in COL4A5 in patients with Alport Syndrome
✍ Kate E. Plant; Peter M. Green; David Vetrie; Frances A. Flinter 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 322 KB 👁 2 views

Alport syndrome (AS) can be caused by mutations in COL4A5, one of the six type IV collagen genes. For the purposes of confirming diagnoses, carrier screening and correlating genotype to phenotype, we have screened all 51 exons of this gene by SSCP analysis in 153 families with suspected AS. Mutation