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COL2A1 exon 2 mutations: relevance to the Stickler and Wagner syndromes
AIMS—To compare the clinical and molecular genetic features of two phenotypically distinct subgroups of families with type 1 Stickler syndrome. BACKGROUND—Stickler syndrome (hereditary arthro-ophthalmopathy, McKusick Nos 108300 and 184840) is a dominantly inherited disorder of collagen connective ti...
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| Autors principals: | , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2000
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1723423/ https://ncbi.nlm.nih.gov/pubmed/10729292 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bjo.84.4.364 |
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