A second mutation in the type II procollagen gene (COL2AI) causing stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon.

Genetic linkage analyses suggest that mutations in type II collagen may be responsible for Stickler syndrome, or arthro-ophthalmopathy (AO), in many families. In the present study oligonucleotide primers were developed to amplify and directly sequence eight of the first nine exons of the gene for ty...

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Detalhes bibliográficos
Main Authors: Ahmad, N N, McDonald-McGinn, D M, Zackai, E H, Knowlton, R G, LaRossa, D, DiMascio, J, Prockop, D J
Formato: Artigo
Idioma:Inglês
Publicado em: 1993
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682101/
https://ncbi.nlm.nih.gov/pubmed/8434604
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