COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans.
COL4A1 基因突变会导致小鼠出现眼部发育不全、神经元定位缺陷和肌病，并导致人类出现沃克-瓦尔堡综合征
期刊:PLoS Genetics
影响因子:3.7
doi:10.1371/journal.pgen.1002062
Labelle-Dumais Cassandre, Dilworth David J, Harrington Emily P, de Leau Michelle, Lyons David, Kabaeva Zhyldyz, Manzini M Chiara, Dobyns William B, Walsh Christopher A, Michele Daniel E, Gould Douglas B
