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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5249094/
https://www.ncbi.nlm.nih.gov/pubmed/28107443
http://dx.doi.org/10.1371/journal.pone.0169002

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