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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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Bibliografski detalji
Glavni autori: Pepin, Melanie G, Schwarze, Ulrike, Singh, Virendra, Romana, Marc, Jones-LeCointe, Altheia, Byers, Peter H
Format: Artigo
Jezik:Inglês
Izdano: Blackwell Publishing Ltd 2013
Teme:
Online pristup: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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