Gene conversion and evolution of Xq28 duplicons involved in recurring inversions causing severe hemophilia A

Inversions breaking the 1041 bp int1h-1 or the 9.5-kb int22h-1 sequence of the F8 gene cause hemophilia A in 1/30,000 males. These inversions are due to homologous recombination between the above sequences and their inverted copies on the same DNA molecule, respectively, int1h-2 and int22h-2 or int2...

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Pubblicato in:	Genome Res
Autori principali:	Bagnall, Richard D., Ayres, Karen L., Green, Peter M., Giannelli, Francesco
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	Cold Spring Harbor Laboratory Press 2005
Soggetti:	Letters
Accesso online:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC546521/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/15687285/ https://ncbi.nlm.nih.govhttps://doi.org/10.1101/gr.2946205
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