Art

J-GLOBAL ID：201902217319692549   Reference number：19A2897540

Novel USP9X variants in two patients with X-linked intellectual disability

X連鎖精神遅滞患者2名における新規USP9X変異

Author (12)： TSURUSAKI Yoshinori (Kanagawa Children’s Medical Center, Yokohama, JPN) ,  TSURUSAKI Yoshinori (Sagami Women’s Univ., Sagamihara, JPN) ,  KURODA Yukiko (Kanagawa Children’s Medical Center, Yokohama, JPN) ,  YAMANOUCHI Yasuko (Kawasaki Univ. Medical Welfare, Kurashiki, JPN) ,  KONDO Eisuke (Kawasaki Medical School, Kurashiki, JPN) ,  OUCHI Kazunobu (Kawasaki Medical School, Kurashiki, JPN) ,  KIMURA Yuichi (Kanagawa Children’s Medical Center, Yokohama, JPN) ,  ENOMOTO Yumi (Kanagawa Children’s Medical Center, Yokohama, JPN) ,  AIDA Noriko (Kanagawa Children’s Medical Center, Yokohama, JPN) ,  MASUNO Mitsuo (Kawasaki Univ. Medical Welfare, Kurashiki, JPN) ,  MASUNO Mitsuo (Kawasaki Medical School, Kurashiki, JPN) ,  KUROSAWA Kenji (Kanagawa Children’s Medical Center, Yokohama, JPN)
Material： Human Genome Variation (Web)
Volume： 6  Issue： Oct  Page： WEB ONLY  Publication year： Oct. 2019 
JST Material Number： U1014A  ISSN： 2054-345X  Document type： Article
Article type： 短報  Country of issue： Germany, Federal Republic of (DEU)  Language： ENGLISH (EN)

Thesaurus term： *amentia ,...
Semi thesaurus term： *Mental Retardation, X-Linked ,...

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JST classification (2)： Diagnostics of congenital diseases, deformities.  (GD03020G) ,  Molecular genetics in general  (EC02010J)

Terms in the title (4)： X連鎖精神遅滞 ,  患者 ,  USP9X ,  変異