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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Detalles Bibliográficos
Autores principales: Pepin, Melanie G, Schwarze, Ulrike, Singh, Virendra, Romana, Marc, Jones-LeCointe, Altheia, Byers, Peter H
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2013
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865588/
https://www.ncbi.nlm.nih.gov/pubmed/24498616
http://dx.doi.org/10.1002/mgg3.21

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