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  • Report of five novel and one recurrentCOL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder

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Original article
Report of five novel and one recurrentCOL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder

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Cite this article as:
Mortier GR, Weis M, Nuytinck L, et al
Report of five novel and one recurrentCOL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder
Journal of Medical Genetics 2000;37:263-271.