Genetics.
نویسنده
چکیده
Emeritus: (Professor) L. L. Cavalli-Sforza, Leonard A. Herzenberg Chair: David Botstein Professors: David Botstein, Stanley N. Cohen, David R. Cox, Ronald W. Davis, Uta Francke, Margaret T. Fuller, Richard M. Myers, Neil J. Risch, Matthew P. Scott, Associate Professors: Gregory S. Barsh, Michele P. Calos, Mark A. Kay, Stuart K. Kim, Tim Stearns, Douglas E. Vollrath Assistant Professors: Julie C. Baker, James M. Ford, Joanna L. Mountain, Arend Sidow, Man-Wah Tan, Anne M. Villenueve Professor (Research): Leonore A. Herzenberg Associate Professor (Research): J. Michael Cherry Assistant Professor (Research): Zijie Sun
منابع مشابه
Identification of the rs797045105 in the SERAC1 gene by Whole-Exome Sequencing in a Patient Suspicious of MEGDEL Syndrome
Whole Exome Sequencing (WES) has been increasingly utilized in genetic determinants of various inherited diseases. We identified a new variation in SERAC1 as the cause of 3-Methylglutaconic Aciduria (MEG), Deafness (D), Encephalopathy (E), and Leigh-like (L), MEGDEL syndrome using WES. We found an insertion, rs797045105 (chr6, 158571484, C>CCATG), in the SERAC1 gene with homozygous genotype in ...
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ورودعنوان ژورنال:
- The Medical journal of Australia
دوره 176 1 شماره
صفحات -
تاریخ انتشار 2002