Loss-of-Function Mutations in HPSE2 Cause the Autosomal Recessive Urofacial Syndrome
HPSE2基因功能丧失突变导致常染色体隐性遗传性泌尿面部综合征
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2010.05.018
Hunter-Zinck, Haley; Musharoff, Shaila; Salit, Jacqueline; Al-Ali, Khalid A; Chouchane, Lotfi; Gohar, Abeer; Matthews, Rebecca; Butler, Marcus W; Fuller, Jennifer; Hackett, Neil R; Crystal, Ronald G; Clark, Andrew G; Garber, Kathryn B; Bungartz, Kathryn D; Williamson, Robin E; Alanay, Yasemin; Avaygan, Hrispima; Camacho, Natalia; Utine, G Eda; Boduroglu, Koray; Aktas, Dilek; Alikasifoglu, Mehmet; Tuncbilek, Ergul; Orhan, Diclehan; Bakar, Filiz Tiker; Zabel, Bernard; Superti-Furga, Andrea; Bruckner-Tuderman, Leena; Curry, Cindy JR; Pyott, Shawna; Byers, Peter H; Eyre, David R; Baldridge, Dustin; Lee, Brendan; Merrill, Amy E; Davis, Elaine C; Cohn, Daniel H; Akarsu, Nurten; Krakow, Deborah; Shaheen, Ranad; Al-Owain, Mohammed; Sakati, Nadia; Alzayed, Zayed S; Alkuraya, Fowzan S; Bashamboo, Anu; Ferraz-de-Souza, Bruno; Lourenço, Diana; Lin, Lin; Sebire, Neil J; Montjean, Debbie; Bignon-Topalovic, Joelle; Mandelbaum, Jacqueline; Siffroi, Jean-Pierre; Christin-Maitre, Sophie; Radhakrishna, Uppala; Rouba, Hassan; Ravel, Celia; Seeler, Jacob; Achermann, John C; McElreavey, Ken; Bakalkin, Georgy; Watanabe, Hiroyuki; Jezierska, Justyna; Depoorter, Cloë; Verschuuren-Bemelmans, Corien; Bazov, Igor; Artemenko, Konstantin A; Yakovleva, Tatjana; Dooijes, Dennis; Van de Warrenburg, Bart PC; Zubarev, Roman A; Kremer, Berry; Knapp, Pamela E; Hauser, Kurt F; Wijmenga, Cisca; Nyberg, Fred; Sinke, Richard J; Verbeek, Dineke S; Cheng, Qing; Cheng, Cheng; Crews, Kristine R; Ribeiro, Raul C; Pui, Ching-Hon; Relling, Mary V; Evans, William E; Pang, Junfeng; Zhang, Shu; Yang, Ping; Hawkins-Lee, Bobbilynn; Zhong, Jixin; Zhang, Yushan; Ochoa, Bernardo; Agundez, Jose AG; Voelckel, Marie-Antoinette; Fisher, Richard B; Gu, Weikuan; Xiong, Wen-Cheng; Mei, Lin; She, Jin-Xiong; Wang, Cong-Yi
