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Allelic background of LEPRE1 mutations that cause recessive forms of osteogenesis imperfecta in different populations
Biallelic mutations in LEPRE1 result in recessively inherited forms of osteogenesis imperfecta (OI) that are often lethal in the perinatal period. A mutation (c.1080+1G>T, IVS5+1G>T) in African Americans has a carrier frequency of about 1/240. The mutant allele originated in West Africa in tri...
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| Main Authors: | , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Blackwell Publishing Ltd
2013
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3865588/ https://ncbi.nlm.nih.gov/pubmed/24498616 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.21 |
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