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Analysis of copy number variation at DMBT1 and age-related macular degeneration

BACKGROUND: DMBT1 is a gene that shows extensive copy number variation (CNV) that alters the number of bacteria-binding domains in the protein and has been shown to activate the complement pathway. It lies next to the ARMS2/HTRA1 genes in a region of chromosome 10q26, where single nucleotide variant...

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Detalles Bibliográficos
Autores principales: Polley, Shamik, Cipriani, Valentina, Khan, Jane C., Shahid, Humma, Moore, Anthony T., Yates, John R. W., Hollox, Edward J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4946147/
https://www.ncbi.nlm.nih.gov/pubmed/27416785
http://dx.doi.org/10.1186/s12881-016-0311-5