De novo mutation in COL2A1 leads to lethal foetal skeletal dysplasia
Ting Zhang, Xueping Sun, Mei Li, Huan Huang
Topics & Concepts
Missense mutationSanger sequencingZebrafishProbandGeneticsBiologyMutationExome sequencingPhenotypeGeneConnective tissue disorders researchCell Adhesion Molecules ResearchSkin and Cellular Biology Research