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The COL4A4 gene in mutated in familial benign hematuria

✍ Scribed by F.T.L. van der Loop; H.H. Lemmink; W.N. Niellesen; H.G. Brunner; L.A.H. Monnens; C.H. Schröder; H.J.M. Smeets

Book ID
117640430
Publisher
Elsevier Science
Year
1996
Tongue
English
Weight
106 KB
Volume
15
Category
Article
ISSN
0945-053X

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Novel COL4A5, COL4A4, and COL4A3 mutatio
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✍ 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