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Novel mutation G324C in WNT1 mapped in a large Pakistani family with severe recessively inherited Osteogenesis Imperfecta
INTRODUCTION: Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous disease with skeletal fragility and variable extra-skeletal manifestations. To date several point mutations in 18 different genes causing different types of OI have been identified. Mutations in WNT1 compromise...
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| Udgivet i: | J Biomed Sci |
|---|---|
| Main Authors: | , , , , , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
BioMed Central
2018
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6240425/ https://ncbi.nlm.nih.gov/pubmed/30447692 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12929-018-0481-x |
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