1
“... membranes. COL4A1 mutations cause multi-system disorders in patients, including ASD (congenital cataracts...”
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Artigo
2
by Shin, Jimann, Padmanabhan, Arun, de Groh, Eric D., Lee, Jeong-Soo, Haidar, Sam, Dahlberg, Suzanne, Guo, Feng, He, Shuning, Wolman, Marc A., Granato, Michael, Lawson, Nathan D., Wolfe, Scot A., Kim, Seok-Hyung, Solnica-Krezel, Lilianna, Kanki, John P., Ligon, Keith L., Epstein, Jonathan A., Look, A. Thomas
Published 2012
“... mutations in the neurofibromin 1 (NF1) gene. Affected individuals demonstrate abnormalities in neural-crest...”Published 2012
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Artigo