Art

J-GLOBAL ID：202002220449710776   Reference number：20A1260365

Long-term observation of a Japanese mucolipidosis IV patient with a novel homozygous p.F313del variant of MCOLN1

Mcoln1の新規ホモ接合性p.F313del変異体を有する日本人ムコリピドーシスIV患者の長期観察【JST・京大機械翻訳】

Author (17)： Hayashi Takaaki (Department of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan) ,  Hayashi Takaaki (Department of Ophthalmology, Katsushika Medical Center, The Jikei University School of Medicine, Tokyo, Japan) ,  Hosono Katsuhiro (Department of Ophthalmology, Hamamatsu University School of Medicine, Shizuoka, Japan) ,  Kubo Akiko (Department of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan) ,  Kubo Akiko (Department of Ophthalmology, Kinan Hospital, Mie, Japan) ,  Kurata Kentaro (Department of Ophthalmology, Hamamatsu University School of Medicine, Shizuoka, Japan) ,  Katagiri Satoshi (Department of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan) ,  Mizobuchi Kei (Department of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan) ,  Kurai Minehiro (Department of Pediatrics, Kinan Hospital, Mie, Japan) ,  Mamiya Norihito (Department of Pediatrics, Kinan Hospital, Mie, Japan) ,  Mamiya Norihito (Department of Pediatrics, Mie University Graduate School of Medicine, Mie, Japan) ,  Kondo Mineo (Department of Ophthalmology, Mie University Graduate School of Medicine, Mie, Japan) ,  Tachibana Toshiaki (Core Research Facilities for Basic Science, The Jikei University School of Medicine, Tokyo, Japan) ,  Saitsu Hirotomo (Department of Biochemistry, Hamamatsu University School of Medicine, Shizuoka, Japan) ,  Ogata Tsutomu (Department of Pediatrics, Hamamatsu University School of Medicine, Shizuoka, Japan) ,  Nakano Tadashi (Department of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan) ,  Hotta Yoshihiro (Department of Ophthalmology, Hamamatsu University School of Medicine, Shizuoka, Japan)
Material： American Journal of Medical Genetics. Part A  (Am J Med Genet Part A)
Volume： 182  Issue： 6  Page： 1500-1505  Publication year： 2020 
JST Material Number： E0725C  ISSN： 1552-4825  Document type： Article
Article type： 原著論文  Country of issue： United States (USA)  Language： ENGLISH (EN)

Abstract/Point： Mucolipidosis type IV (MLIV) i...

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Thesaurus term： retina ,  heredity ,  gene ,  multiplex ,  lysosome ,  ophthalmology ,  NMR imaging ,  inclusion(object) ,  optic disk ,  autosome ,  granulocyte(leucocyte) ,  deletion mutation ,  *mucolipidosis ,  retinal degeneration ,  endosome

Author keywords (5)： lysosomal storage disorder ,  MCOLN1 ,  mucolipidosis type IV ,  psychomotor delay ,  retinal degeneration

JST classification (1)： Congenital diseases,deformities in general.  (GD03010V)

Terms in the title (6)： ホモ接合性 ,  変異体 ,  日本人 ,  ムコリピドーシス ,  患者 ,  長期観察