Article
Secretory COPII coat component Sec23a is essential for craniofacial chondrocyte maturation.
Nature genetics - 1 Oct 2006
Lang Michael R, Lapierre Lynne A, Frotscher Michael, Goldenring James R, Knapik Ela W
Abstract excerpt
An increasing number of human disorders have been linked to mutations in genes of the secretory pathway. The chemically induced zebrafish crusher variant results in malformed craniofacial skeleton, kinked pectoral fins and a short body length. By positional cloning, we identified a nonsense mutation converting leucine to a stop codon (L402X) in the sec23a gene, an integral component of the COPII complex, which is...
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