Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis
FOCAD 的缺失（通过 SKI 信使 RNA 监视通路发挥作用）会导致一种伴有肝硬化的儿童综合征。
期刊:Nature Genetics
影响因子:31.7
doi:10.1038/s41588-022-01120-0
Ricardo Moreno Traspas,Tze Shin Teoh,Pui-Mun Wong,Michael Maier,Crystal Y Chia,Kenneth Lay,Nur Ain Ali,Austin Larson,Fuad Al Mutairi,Nouriya Abbas Al-Sannaa,Eissa Ali Faqeih,Majid Alfadhel,Huma Arshad Cheema,Juliette Dupont,Stéphane Bézieau,Bertrand Isidor,Dorrain Yanwen Low,Yulan Wang,Grace Tan,Poh San Lai,Hugues Piloquet,Madeleine Joubert,Hulya Kayserili,Kimberly A Kripps,Shareef A Nahas,Eric P Wartchow,Mikako Warren,Gandham SriLakshmi Bhavani,Majed Dasouki,Renata Sandoval,Elisa Carvalho,Luiza Ramos,Gilda Porta,Bin Wu,Harsha Prasada Lashkari,Badr AlSaleem,Raeda M BaAbbad,Anabela Natália Abreu Ferrão,Vasiliki Karageorgou,Natalia Ordonez-Herrera,Suliman Khan,Peter Bauer,Benjamin Cogne,Aida M Bertoli-Avella,Marie Vincent,Katta Mohan Girisha,Bruno Reversade
