换一批Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy
第一作者：
Wong, Hui Hui
作者：
Wong, Hui Hui [1]
;
Seet, Sze Hwee [2]
;
Maier, Michael [3]
;
Gurel, Ayse [4]
;
Traspas, Ricardo Moreno [5]
;
Lee, Cheryl [6]
;
Zhang, Shan [7]
;
Talim, Beril [8]
;
Loh, Abigail Y. T. [9]
;
Chia, Crystal Y. [10]
;
Teoh, Tze Shin [11]
;
Sng, Danielle [12]
;
Rensvold, Jarred [13]
;
Unal, Sule [14]
;
Shishkova, Evgenia [15]
;
Cepni, Ece [16]
;
Nathan, Fatima M. [17]
;
Sirota, Fernanda L. [18]
;
Liang, Chao [19]
;
Yarali, Nese [20]
;
Simsek-Kiper, Pelin O. [21]
;
Mitani, Tadahiro [22]
;
Ceylaner, Serdar [23]
;
Arman-Bilir, Ozlem [24]
;
Mbarek, Hamdi [25]
;
Gumruk, Fatma [26]
;
Efthymiou, Stephanie [27]
;
Cimen, Deniz Ugurlu ;
Georgiadou, Danai ;
Sotiropoulou, Kortessa ;
Houlden, Henry ;
Paul, Franziska ;
Pehlivan, Davut ;
Laine, Candice ;
Chai, Guoliang ;
Ali, Nur Ain ;
Choo, Siew Chin ;
Keng, Soh Sok ;
Boisson, Bertrand ;
Yilmaz, Elanur ;
Xue, Shifeng ;
Coon, Joshua J. ;
Ly, Thanh Thao Nguyen ;
Gilani, Naser ;
Hasbini, Dana ;
Kayserili, Hulya ;
Zaki, Maha S. ;
Isfort, Robert J. ;
Ordonez, Natalia ;
Tripolszki, Kornelia ;
Bauer, Peter ;
Rezaei, Nima ;
Seyedpour, Simin ;
Khotaei, Ghamar Taj ;
Bascom, Charles C. ;
Maroofian, Reza ;
Chaabouni, Myriam ;
Alsubhi, Afaf ;
Eyaid, Wafaa ;
Isikay, Sedat ;
Gleeson, Joseph G. ;
Lupski, James R. ;
Casanova, Jean-Laurent ;
Pagliarini, David J. ;
Akarsu, Nurten A. ;
Maurer-Stroh, Sebastian ;
Cetinkaya, Arda ;
Bertoli-Avella, Aida ;
Mathuru, Ajay S. ;
Ho, Lena ;
Bard, Frederic A. ;
Reversade, Bruno
作者单位：
Ankara Child Hlth & Dis Hematol Oncol Training &
[1]
Fac Med,Hacettepe Univ
[2]
Dept Mol & Human Genet,Baylor Coll Med
[3]
Intergen Genet Diag Ctr
[4]
Qatar Fdn Res Dev & Innovat,Qatar Fdn
[5]
Mol & Clin Sci Inst,St Georges Univ London
[6]
Biopolis,ASTAR
[7]
Imagine Inst,Paris Univ
[8]
Rady Childrens Inst Genom Med
[9]
Lab Human Genet & Therapeut,ASTAR
[10]
Med Genet Dept,Koc Univ
[11]
Dept Neuromuscular Dis,UCL Queen Sq Inst Neurol
[12]
Morgridge Inst Res
[13]
Farabi Med Lab
[14]
Dept Pediat,Rafic Hariri Univ Hosp
[15]
Clin Genet Dept,Natl Res Ctr
[16]
Corp Res,Procter & Gamble Co
[17]
Genom Res,CENTOGENE GmbH
[18]
Res Ctr Immunodeficiencies,Univ Tehran Med Sci
[19]
Lab Anal Specialise Genet
[20]
Childrens Med Ctr,Univ Tehran Med Sci
[21]
Dept Pediat,King Abdullah Specialized Children Hosp
[22]
Sch Med,Gaziantep Univ
[23]
Dept Cell Biol & Physiol,Washington Univ
[24]
Natl Ctr Quantitat Biol Complex Syst
[25]
Inst Hlth Sci,Koc Univ
[26]
Yale NUS Coll
[27]
发布时间
2022-10-29
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