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Mutations in QARS, encoding glutaminyl-trna synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures

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第一作者: Zhang,X.
作者单位: Sanford Children's Health Research Center, Sanford Research, 2301 East 60th Street North, Sioux [1] Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, United States [2] Howard Hughes Medical Institute, United States, Stem Cell Program and Division of Hematology [3] Department of Microbiology and Molecular Genetics, University of Texas Health Science Center [4] Department of Genetics, H?pital Necker-Enfants Malades, Université Paris Descartes, 75006 Paris [5] Department of Neurology, Boston Children's Hospital, Boston, MA 02115, United States, Department of [6] Department of Pediatric Radiology, H?pital Necker-Enfants Malades, Université Paris Descartes [7] Departments of Pediatrics and Ob/Gyn, Sanford School of Medicine, Sioux Falls, SD 57105, United [8] Department of Molecular Biophysics and Biochemistry, Yale University, New Haven, CT 06520-8114 [9] Department of Pediatric Neurology, Centre de Reference Epilepsies Rares, H?pital Necker-Enfants [10] Department of Pediatric Neurology, Centre Hospitalier Universitaire de Lyon, 69007 Lyon, France [11]
发布时间 2014-06-18
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The American Journal of Human Genetics

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