Art

J-GLOBAL ID：200902138227642568   Reference number：97A0007081

An imprinted gene p57^KIP2 is mutated in Beckwith-Wiedemann syndrome.

Beckwith-Wiedemann症候群ではインプリントされたp57^KIP2遺伝子が変異している

Author (9)： HATADA I (National Cardiovascular Center Res. Inst., Osaka, JPN) ,  OHASHI H (Saitama Children’s Medical Center, Saitama, JPN) ,  FUKUSHIMA Y (Shinshu Univ. School of Medicine, Nagano, JPN) ,  KANEKO Y (Saitama Cancer Center, Saitama, JPN) ,  INOUE M (Osaka Univ. Medical School, Osaka, JPN) ,  KOMOTO Y (Osaka Univ. Medical School, Osaka, JPN) ,  NAKAYAMA M (Osaka Medical Center and Res. Inst. Maternal and Child Health, Osaka, JPN) ,  NIIKAWA N (Nagasaki Univ. School of Medicine, Nagasaki, JPN) ,  MUKAI T (National Cardiovascular Center Res. Inst., Osaka, JPN)
Material： Nature Genetics  (Nat Genet)
Volume： 14  Issue： 2  Page： 171-173  Publication year： Oct. 1996 
JST Material Number： W0430A  ISSN： 1061-4036  Document type： Article
Article type： 短報  Country of issue： United States (USA)  Language： ENGLISH (EN)

Thesaurus term： abnormality ,...
Semi thesaurus term： Beckwith-Wiedemann syndrome ,...

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JST classification (2)： Diagnostics of congenital diseases, deformities.  (GD03020G) ,  Structure and chemistry of genes  (EC02020U)

Terms in the title (3)： Beckwith-Wiedemann症候群 ,  遺伝子 ,  変異