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Genotype-Phenotype Correlations in Autosomal Dominant Osteogenesis Imperfecta
Osteogenesis imperfecta, discussed in Baldridge et al. 2008 is an inherited bone fragility disorder with a wide range of clinical severity that in the majority of cases is caused by mutations in COL1A1 or COL1A2, the genes that encode the two collagen type I alpha chains. Here we describe genotype-p...
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , |
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| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
SAGE-Hindawi Access to Research
2011
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3170785/ https://ncbi.nlm.nih.gov/pubmed/21912751 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4061/2011/540178 |
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