Identification of the PLA2G6 c.1579G>A Missense Mutation in Papillon Dog Neuroaxonal Dystrophy Using Whole Exome Sequencing Analysis

Whole exome sequencing (WES) has become a common tool for identifying genetic causes of human inherited disorders, and it has also recently been applied to canine genome research. We conducted WES analysis of neuroaxonal dystrophy (NAD), a neurodegenerative disease that sporadically occurs worldwide...

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Udgivet i:PLoS One
Main Authors: Tsuboi, Masaya, Watanabe, Manabu, Nibe, Kazumi, Yoshimi, Natsuko, Kato, Akihisa, Sakaguchi, Masahiro, Yamato, Osamu, Tanaka, Miyuu, Kuwamura, Mitsuru, Kushida, Kazuya, Ishikura, Takashi, Harada, Tomoyuki, Chambers, James Kenn, Sugano, Sumio, Uchida, Kazuyuki, Nakayama, Hiroyuki
Format: Artigo
Sprog:Inglês
Udgivet: Public Library of Science 2017
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5249094/
https://ncbi.nlm.nih.gov/pubmed/28107443
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0169002
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