automated dna mutation detection using universal conditions direct sequencing application to ten muscular dystrophy genes自动化的dna突变检测使用通用条件直接测序应用到十肌肉萎缩症的基因.pdfVIP

BMC Genetics BioMed Central Methodology article Open Access Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes 1 1 1 1 Richard R Bennett* , Hal E Schneider , Elicia Estrella , Stephanie Burgess , 2 1 2 3 2 Andrew S Cheng , Caitlin Barrett , Va Lip , Poh San Lai , Yiping Shen , Bai- 2 4 1,5 1,6,7 Lin Wu , Basil T Darras , Alan H Beggs and Louis M Kunkel Address: 1Program in Genomics and Division of Genetics, and The Manton Center for Orphan Disease Research, Childrens Hospital Boston, Boston, Massachusetts, USA, 2Department of Laboratory Medicine, Childrens Hospital Boston, Boston, Massachusetts, USA, and Department of Pathology, Harvard Medical School, Boston, Massachusetts, USA, 3Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, 4Department of Neurology, Childrens Hospital Boston, Boston, Massachusetts, USA, 5Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA, 6Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA and 7Howard Hughes Medical Institute, Childrens Hospital Boston, Boston, Massachusetts, USA, and Harvard Medical School, Boston, Massachusetts, USA Email: Richard R Bennett* - bennett@; Hal E Schneider - hschneider@; Elicia Estrella - elici