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The complex genetics of hypoplastic left heart syndrome
Nature Genetics ( IF 30.8 ) Pub Date : 2017-05-22 00:00:00 , DOI: 10.1038/ng.3870 Xiaoqin Liu , Hisato Yagi , Shazina Saeed , Abha S Bais , George C Gabriel , Zhaohan Chen , Kevin A Peterson , You Li , Molly C Schwartz , William T Reynolds , Manush Saydmohammed , Brian Gibbs , Yijen Wu , William Devine , Bishwanath Chatterjee , Nikolai T Klena , Dennis Kostka , Karen L de Mesy Bentley , Madhavi K Ganapathiraju , Phillip Dexheimer , Linda Leatherbury , Omar Khalifa , Anchit Bhagat , Maliha Zahid , William Pu , Simon Watkins , Paul Grossfeld , Stephen A Murray , George A Porter , Michael Tsang , Lisa J Martin , D Woodrow Benson , Bruce J Aronow , Cecilia W Lo
Nature Genetics ( IF 30.8 ) Pub Date : 2017-05-22 00:00:00 , DOI: 10.1038/ng.3870 Xiaoqin Liu , Hisato Yagi , Shazina Saeed , Abha S Bais , George C Gabriel , Zhaohan Chen , Kevin A Peterson , You Li , Molly C Schwartz , William T Reynolds , Manush Saydmohammed , Brian Gibbs , Yijen Wu , William Devine , Bishwanath Chatterjee , Nikolai T Klena , Dennis Kostka , Karen L de Mesy Bentley , Madhavi K Ganapathiraju , Phillip Dexheimer , Linda Leatherbury , Omar Khalifa , Anchit Bhagat , Maliha Zahid , William Pu , Simon Watkins , Paul Grossfeld , Stephen A Murray , George A Porter , Michael Tsang , Lisa J Martin , D Woodrow Benson , Bruce J Aronow , Cecilia W Lo
Cecilia Lo and colleagues report the recovery of mice with hypoplastic left heart syndrome (HLHS) from a large mutagenesis screen. They find genetic heterogeneity among HLHS mice and functionally validate mutations in two genes, Sap130 and Pcdha, as contributing to HLHS in a combinatorial manner.
中文翻译：
左心发育不全综合征的复杂遗传学
塞西莉亚·洛（Cecilia Lo）和同事报告了从大型诱变筛查中发现患有发育不良的左心综合征（HLHS）的小鼠的康复情况。他们发现了HLHS小鼠之间的遗传异质性，并在功能上验证了两个基因Sap130和Pcdha的突变，从而以组合方式促进了HLHS。
更新日期：2017-06-29
中文翻译：
左心发育不全综合征的复杂遗传学
塞西莉亚·洛（Cecilia Lo）和同事报告了从大型诱变筛查中发现患有发育不良的左心综合征（HLHS）的小鼠的康复情况。他们发现了HLHS小鼠之间的遗传异质性，并在功能上验证了两个基因Sap130和Pcdha的突变，从而以组合方式促进了HLHS。
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