Exome Sequencing Identified a Splice Site Mutation in FHL1 that Causes Uruguay Syndrome, an X-Linked Disorder With Skeletal Muscle Hypertrophy and Premature Cardiac Death

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作者： Xue, Yuan ^[1] ; Schoser, Benedikt ^[2] ; Rao, Aliz R. ^[3] ; Quadrelli, Roberto ^[4] ; Vaglio, Alicia ^[5] ; Rupp, Verena ^[6] ; Beichler, Christine ^[7] ; Nelson, Stanley F. ; Schapacher-Tilp, Gudrun ; Windpassinger, Christian ; Wilcox, William R.

作者单位： Univ Calif Los Angeles, Sch Med, Dept Human Genet, Los Angeles, CA 90024 USA ^[1] Med Univ Graz, Inst Human Genet, Graz, Austria ^[2] Karl Franzens Univ Graz, Dept Math & Sci Comp, Graz, Austria ^[3] Klinikum Univ, Friedrich Baur Inst, Neurol Klin, Munich, Germany ^[4] Hosp Italiano, Inst Med Genet, Montevideo, Uruguay ^[5] Emory Univ, Dept Human Genet, Div Med Genet, Atlanta, GA 30322 USA ^[6] Emory Univ, Dept Human Genet, Emory Genet Lab, Atlanta, GA 30322 USA ^[7]

关键词 exons gene mutation polymorphism single nucleotide Uruguay

发布时间 2017-04-15

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