Art

J-GLOBAL ID：200902264015126271   Reference number：03A0868424

Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1)

先天性外眼筋線維症1型(CFEOM1)におけるキネシンKIF21Aのヘテロ接合性変異

Author (9)： YAMADA K (Harvard Medical School, Massachusetts, USA) ,  MCKEOWN C A (Bascom Palmer Eye Inst., Florida, USA) ,  MAGLI A (Univ. Napoli, Naples, ITA) ,  LOEWENSTEIN A (Tel-Aviv Univ., Tel-Aviv, ISR) ,  O'KEEFE M (Children’s Hospital, Dublin, IRL) ,  LETSON R (Univ. Minnesota, Minnesota, USA) ,  LONDON A (Aspen Medical Group, Minnesota, USA) ,  RUTTUM M (Medical Coll. of Wisconsin, Wisconsin, USA) ,  MATSUMOTO N (Nagasaki Univ. Graduate School of Biomedical Sci., Nagasaki, JPN)
Material： Nature Genetics  (Nat Genet)
Volume： 35  Issue： 4  Page： 318-321  Publication year： Dec. 10, 2003 
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： *fibrous disease ,...
Semi thesaurus term： 先天性外眼筋線維症1 ,...

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JST classification (5)： Congenital diseases,deformities in general.  (GD03010V) ,  Peripheral nervous system  (EJ12020U) ,  Genetic variation  (EC01030Y) ,  Biological function  (EB03040U) ,  Function of cell components  (EF03060C)

Terms in the title (5)： 外眼筋 ,  線維症 ,  キネシン ,  ヘテロ接合性 ,  変異