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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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Sonraí Bibleagrafaíochta
Main Authors: Pepin, Melanie G, Schwarze, Ulrike, Singh, Virendra, Romana, Marc, Jones-LeCointe, Altheia, Byers, Peter H
Formáid: Artigo
Teanga:Inglês
Foilsithe: Blackwell Publishing Ltd 2013
Ábhair:
Rochtain Ar Líne: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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