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COL4A2 Mutations Impair COL4A1 and COL4A2 Secretion and Cause Hemorrhagic Stroke

✍ Scribed by Marion Jeanne; Cassandre Labelle-Dumais; Jeff Jorgensen; W. Berkeley Kauffman; Grazia M. Mancini; Jack Favor; Valerie Valant; Steven M. Greenberg; Jonathan Rosand; Douglas B. Gould


Book ID
113423147
Publisher
American Society of Human Genetics
Year
2012
Tongue
English
Weight
929 KB
Volume
90
Category
Article
ISSN
0002-9297

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Novel COL4A5, COL4A4, and COL4A3 mutatio
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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