| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 10913841 | Matrix Biology | 2012 | 9 Pages |
Abstract
⺠The systemic HANAC phenotype is caused by glycine substitutions in human COL4A1. ⺠Studies of the mutant muscle are lacking and the pathomechanism remains unknown. ⺠We identified dominant point mutations in Drosophila col4a1 gene. ⺠These show intra- and extracellular disorganization in multiple muscle types.
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Authors
Ildikó Kelemen-Valkony, Márton Kiss, Judit Csiha, András Kiss, Urs Bircher, János Szidonya, Péter Maróy, Gábor Juhász, Orbán Komonyi, Katalin Csiszár, Mátyás Mink,