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A COL4A3 gene mutation and post-transplant anti-α3(IV) collagen alloantibodies in Alport syndrome

✍ Scribed by Kalluri, Raghu; van den Heuvel, L P; Smeets, H J M; Schroder, C H; Lemmink, H H; Boutaud, Ariel; Neilson, Eric G; Hudson, Billy G


Book ID
109884027
Publisher
Nature Publishing Group
Year
1995
Tongue
English
Weight
639 KB
Volume
47
Category
Article
ISSN
0085-2538

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Novel COL4A5, COL4A4, and COL4A3 mutatio
✍ 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