文献
J-GLOBAL ID:201202204483217007
整理番号:12A0046242
全エクソーム配列決定は,OhdoシンドロームのSay-Barber-Biesecker変異型を有する個体におけるヒストンアセチルトランスフェラーゼ遺伝子KAT6Bの突然変異を同定する
Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say-Barber-Biesecker Variant of Ohdo Syndrome
著者 (24件):
CLAYTON-SMITH Jill
(Genetic Medicine, St. Mary’s Hospital, Manchester Academic Health Sciences Centre, School of Biomedicine, Univ. of ...)
,
O’SULLIVAN James
(Genetic Medicine, St. Mary’s Hospital, Manchester Academic Health Sciences Centre, School of Biomedicine, Univ. of ...)
,
DALY Sarah
(Genetic Medicine, St. Mary’s Hospital, Manchester Academic Health Sciences Centre, School of Biomedicine, Univ. of ...)
,
BHASKAR Sanjeev
(Genetic Medicine, St. Mary’s Hospital, Manchester Academic Health Sciences Centre, School of Biomedicine, Univ. of ...)
,
DAY Ruth
(Genetic Medicine, St. Mary’s Hospital, Manchester Academic Health Sciences Centre, School of Biomedicine, Univ. of ...)
,
ANDERSON Beverley
(Genetic Medicine, St. Mary’s Hospital, Manchester Academic Health Sciences Centre, School of Biomedicine, Univ. of ...)
,
VOSS Anne K.
(Div. of Molecular Medicine, Walter and Eliza Hall Inst., 1G Royal Parade, Melbourne, Victoria 3052, AUS)
,
VOSS Anne K.
(Dep. of Medical Biology, the Univ. of Melbourne, Victoria 3052, AUS)
,
THOMAS Tim
(Div. of Molecular Medicine, Walter and Eliza Hall Inst., 1G Royal Parade, Melbourne, Victoria 3052, AUS)
,
BIESECKER Leslie G.
(National Human Genome Res. Inst., Genetic Diseases Res. Branch, Building 49, Room 4A56, Bethesda, MD 20892, USA)
,
SMITH Philip
(Genetic Medicine, St. Mary’s Hospital, Manchester Academic Health Sciences Centre, School of Biomedicine, Univ. of ...)
,
FRYER Alan
(Cheshire and Merseyside Genetics Serv., Alder Hey Hospital, Eaton Road, Liverpool L12 2AP, GBR)
,
CHANDLER Kate E.
(Genetic Medicine, St. Mary’s Hospital, Manchester Academic Health Sciences Centre, School of Biomedicine, Univ. of ...)
,
KERR Bronwyn
(Genetic Medicine, St. Mary’s Hospital, Manchester Academic Health Sciences Centre, School of Biomedicine, Univ. of ...)
,
TASSABEHJI May
(Genetic Medicine, St. Mary’s Hospital, Manchester Academic Health Sciences Centre, School of Biomedicine, Univ. of ...)
,
LYNCH Sally-ann
(National Centre for Medical Genetics, Our Lady’s Hospital, Crumlin, Dublin 12, Ireland)
,
KRAJEWSKA-WALASEK Malgorzata
(Dep. of Medical Genetics, The Children’s Memorial Health Inst., Al. Dzieci Polskich 20, 04-730 Warsaw, POL)
,
MCKEE Shane
(Northern Ireland Regional Genetics Serv., Dep. of Genetic Medicine, Belfast City Hospital, Lisburn Road, Belfast BT9 ...)
,
SMITH Janine
(Dep. of Clinical Genetics, The Children’s Hospital at Westmead, NSW 2145, AUS)
,
SWEENEY Elizabeth
(Cheshire and Merseyside Genetics Serv., Alder Hey Hospital, Eaton Road, Liverpool L12 2AP, GBR)
,
MANSOUR Sahar
(Dep. of Medical Genetics, St George’s Medical School, Cranmer Terrace, London SW17 0RE, GBR)
,
MOHAMMED Shehla
(Dep. of Clinical Genetics, 7th Floor, Borough Wing, Guy’s Hospital, Great Maze Pond, London, SE1 9RT, GBR)
,
DONNAI Dian
(Genetic Medicine, St. Mary’s Hospital, Manchester Academic Health Sciences Centre, School of Biomedicine, Univ. of ...)
,
BLACK Graeme
(Genetic Medicine, St. Mary’s Hospital, Manchester Academic Health Sciences Centre, School of Biomedicine, Univ. of ...)
資料名:
American Journal of Human Genetics
(American Journal of Human Genetics)
巻:
89
号:
5
ページ:
675-681
発行年:
2011年11月11日
JST資料番号:
B0360B
ISSN:
0002-9297
資料種別:
逐次刊行物 (A)
発行国:
オランダ (NLD)
言語:
英語 (EN)