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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Bibliographic Details
Main Authors: Bo Yuan, Pengfei Liu, Aditya Gupta, Christine R Beck, Anusha Tejomurtula, Ian M Campbell, Tomasz Gambin, Alexandra D Simmons, Marjorie A Withers, R Alan Harris, Jeffrey Rogers, David C Schwartz, James R Lupski
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2015-12-01
Series:PLoS Genetics
Online Access:http://europepmc.org/articles/PMC4671654?pdf=render