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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Enregistré dans:
Détails bibliographiques
Auteurs principaux: Richards, A., Martin, S., Yates, J., Scott, J., Baguley, D., Pope, F, Snead, M.
Format: Artigo
Langue:Inglês
Publié: 2000
Sujets:
Original articles - Clinical science
Accès en ligne: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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