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

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

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作者： Masaya,Tsuboi ^[1] ; Manabu,Watanabe ^[2] ; Kazumi,Nibe ^[3] ; Natsuko,Yoshimi ^[4] ; Akihisa,Kato ^[4] ; Masahiro,Sakaguchi ^[5] ; Osamu,Yamato ^[6] ; Miyuu,Tanaka ^[7] ; Mitsuru,Kuwamura ^[7] ; Kazuya,Kushida ^[6] ; Takashi,Ishikura ^[8] ; Tomoyuki,Harada ^[1] ; James Kenn,Chambers ^[1] ; Sumio,Sugano ^[2] ; Kazuyuki,Uchida ^[1] ; Hiroyuki,Nakayama ^[1]

作者单位： Laboratory of Veterinary Pathology, Graduate School of Agricultural and Life Sciences, The University of Tokyo, Tokyo, Japan. ^[1] Laboratory of Functional Genomics, Graduate School of Frontier Sciences, The University of Tokyo, Tokyo, Japan. ^[2] Japan Animal Referral Medical Center, Kanagawa, Japan. ^[3] D&C Veterinary Clinic, Ibaraki, Japan. ^[4] Laboratory of Veterinary Microbiology I, School of Veterinary Medicine, Azabu University, Kanagawa, Japan. ^[5] Laboratory of Clinical Pathology, Joint Faculty of Veterinary Medicine, Kagoshima University, Kagoshima, Japan. ^[6] Laboratory of Veterinary Pathology, Graduate School of Life and Environmental Sciences, Osaka Prefecture University, Osaka, Japan. ^[7] Thermo Fisher Scientific, Life Technologies Japan Ltd., Tokyo, Japan. ^[8]

主题词氨基酸序列(Amino Acid Sequence);动物(Animals);狗疾病(Dog Diseases);狗(Dogs);女(雌)性(Female);Ⅵ型磷脂酶A2(Group VI Phospholipases A2);免疫组织化学(Immunohistochemistry);男(雄)性(Male);突变, 误义(Mutation, Missense);神经轴突营养不良(Neuroaxonal Dystrophies);系谱(Pedigree);RNA, 信使(RNA, Messenger);逆转录聚合酶链反应(Reverse Transcriptase Polymerase Chain Reaction);序列同源性, 氨基酸(Sequence Homology, Amino Acid)

DOI 10.1371/journal.pone.0169002

PMID 28107443

发布时间 2018-11-13

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PloS one

PloS one

2017年12卷1期

e0169002页

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