首页> Nature genetics> Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1).

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

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第一作者： Koki,Yamada

第一单位： Department of Medicine (Genetics), Enders 5, Children's Hospital Boston, 300 Longwood Avenue, Boston, Massachusetts 02115, USA.

作者： Koki,Yamada ^[1] ; Caroline,Andrews ; Wai-Man,Chan ; Craig A,McKeown ; Adriano,Magli ; Teresa,de Berardinis ; Anat,Loewenstein ; Moshe,Lazar ; Michael,O'Keefe ; Robert,Letson ; Arnold,London ; Mark,Ruttum ; Naomichi,Matsumoto ; Nakamichi,Saito ; Lisa,Morris ; Monte,Del Monte ; Roger H,Johnson ; Eiichiro,Uyama ; Willem A,Houtman ; Berendina,de Vries ; Thomas J,Carlow ; Blaine L,Hart ; Nicolas,Krawiecki ; John,Shoffner ; Marlene C,Vogel ; James,Katowitz ; Scott M,Goldstein ; Alex V,Levin ; Emin C,Sener ; Banu T,Ozturk ; A Nurten,Akarsu ; Michael C,Brodsky ; Frank,Hanisch ; Robert P,Cruse ; Alina A,Zubcov ; Richard M,Robb ; Peter,Roggenkäemper ; Irene,Gottlob ; Lionel,Kowal ; Ravi,Battu ; Elias I,Traboulsi ; Piergiorgio,Franceschini ; Anna,Newlin ; Joseph L,Demer ; Elizabeth C,Engle

作者单位： Department of Medicine (Genetics), Enders 5, Children's Hospital Boston, 300 Longwood Avenue, Boston, Massachusetts 02115, USA. ^[1]