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Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population
Osteochondrodysplasias represent a large group of developmental structural disorders that can be caused by mutations in a variety of genes responsible for chondrocyte development, differentiation, mineralization and early ossification. The application of whole-exome sequencing to disorders apparentl...
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| Yayımlandı: | Eur J Hum Genet |
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| Asıl Yazarlar: | , , , , , , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Nature Publishing Group
2015
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4326704/ https://ncbi.nlm.nih.gov/pubmed/24986830 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.107 |
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