换一批
换一批Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
作者：
Wang, Huijun [1]
;
Humbatova, Aytaj [2]
;
Liu, Yuanxiang [3]
;
Qin, Wen [4]
;
Lee, Mingyang [5]
;
Cesarato, Nicole [6]
;
Kortuem, Fanny [7]
;
Kumar, Sheetal [8]
;
Romano, Maria Teresa [9]
;
Dai, Shangzhi [10]
;
Mo, Ran [11]
;
Sivalingam, Sugirthan [12]
;
Motameny, Susanne [13]
;
Wu, Yuan [14]
;
Wang, Xiaopeng [15]
;
Niu, Xinwu [16]
;
Geng, Songmei ;
Bornholdt, Dorothea ;
Kroisel, Peter M. ;
Tadini, Gianluca ;
Walter, Scott D. ;
Hauck, Fabian ;
Girisha, Katta M. ;
Calza, Anne-Marie ;
Bottani, Armand ;
Altmueller, Janine ;
Buness, Andreas ;
Yang, Shuxia ;
Sun, Xiujuan ;
Ma, Lin ;
Kutsche, Kerstin ;
Grzeschik, Karl-Heinz ;
Betz, Regina C. ;
Lin, Zhimiao
作者单位：
Peking Univ, Natl Clin Res Ctr Skin & Immune Dis, Beijing Key Lab Mol Diag Dermatoses, Hosp 1,Dept
[1]
Univ Cologne, Cologne Ctr Genom, D-50931 Cologne, Germany
[2]
Xi An Jiao Tong Univ, Dept Dermatol, Affiliated Hosp 2, Xian 710004, Peoples R China
[3]
Univ Bonn, Med Fac, Inst Med Biometry Informat & Epidemiol, D-53127 Bonn, Germany
[4]
Geneva Univ Hosp, Dept Dermatol & Venereol, CH-1205 Geneva, Switzerland
[5]
Capital Med Univ, Beijing Childrens Hosp, Natl Ctr Childrens Hlth, Dept Dermatol, Beijing 100045
[6]
Univ Bonn, Med Fac, Inst Human Genet, D-53127 Bonn, Germany
[7]
Univ Milan, Fdn IRCCS Ca Granda, Dept Pathophysiol & Transplantat, Pediat Dermatol Unit,Osped
[8]
Geneva Univ Hosp, Serv Genet Med, CH-1205 Geneva, Switzerland
[9]
Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, Germany
[10]
Med Univ Graz, Inst Human Genet, A-8010 Graz, Austria
[11]
Peking Univ, Dept Ophthalmol, Hosp 1, Beijing 100034, Peoples R China
[12]
Manipal Acad Higher Educ, Kasturba Med Coll, Dept Med Genet, Manipal, Karnataka, India
[13]
Retina Consultants PC, 43 Woodland St,Suite 100, Hartford, CT 06105 USA
[14]
Tech Univ Dresden, Dept Pediat, Univ Hosp Carl Gustav Carus, D-01307 Dresden, Germany
[15]
Univ Marburg, Ctr Human Genet, D-35033 Marburg, Germany
[16]
发布时间
2021-07-24
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The American Journal of Human Genetics
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