Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates

Many loci in the human genome harbor complex genomic structures that can result in susceptibility to genomic rearrangements leading to various genomic disorders. Nephronophthisis 1 (NPHP1, MIM# 256100) is an autosomal recessive disorder that can be caused by defects of NPHP1; the gene maps within th...

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Detalhes bibliográficos
Publicado no:PLoS Genet
Principais autores: Yuan, Bo, Liu, Pengfei, Gupta, Aditya, Beck, Christine R., Tejomurtula, Anusha, Campbell, Ian M., Gambin, Tomasz, Simmons, Alexandra D., Withers, Marjorie A., Harris, R. Alan, Rogers, Jeffrey, Schwartz, David C., Lupski, James R.
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2015
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4671654/
https://ncbi.nlm.nih.gov/pubmed/26641089
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1005686
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