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Exclusion of the COL2A1 gene as the mutation site in diastrophic dysplasia.
The involvement of the cartilage specific type II collagen gene (COL2A1) was studied in nine patients with diastrophic dysplasia in the Finnish population, where the prevalence of this chondrodystrophy clearly exceeds that reported for other populations. COL2A1 was chosen as the candidate gene based...
Enregistré dans:
| Publié dans: | J Med Genet |
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| Auteurs principaux: | , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
BMJ Publishing Group
1989
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1015598/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2732992/ https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.26.5.314 |
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