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Osteogenesis imperfecta: from phenotype to genotype and back again.
The presumption that identification of the collagen gene mutations in OI would completely explain the phenotype is unjustified. Full understanding of this fragile bone syndrome will depend on the intelligent interpretation of both the biochemical abnormalities and the clinical features. Between thes...
Αποθηκεύτηκε σε:
| Κύριος συγγραφέας: | |
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| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
1994
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2002243/ https://ncbi.nlm.nih.gov/pubmed/7947227 |
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