Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort

Kevin M. Flanigan; Diane M. Dunn; Andrew von Niederhausern; Payam Soltanzadeh; Eduard Gappmaier; Michael T. Howard; Jacinda B. Sampson; Jerry R. Mendell; Cheryl Wall; Wendy M. King; Alan Pestronk; Julaine M. Florence; Anne M. Connolly; Katherine D. Mathews; Carrie M. Stephan; Karla S. Laubenthal; Brenda L. Wong; Paula J. Morehart; Amy Meyer; Richard S. Finkel; Carsten G. Bonnemann; Livija Medne; John W. Day; Joline C. Dalton; Marcia K. Margolis; Veronica J. Hinton; Robert B. Weiss

作者Kevin M. Flanigan; Diane M. Dunn; Andrew von Niederhausern; Payam Soltanzadeh; Eduard Gappmaier; Michael T. Howard; Jacinda B. Sampson; Jerry R. Mendell; Cheryl Wall; Wendy M. King; Alan Pestronk; Julaine M. Florence; Anne M. Connolly; Katherine D. Mathews; Carrie M. Stephan; Karla S. Laubenthal; Brenda L. Wong; Paula J. Morehart; Amy Meyer; Richard S. Finkel; Carsten G. Bonnemann; Livija Medne; John W. Day; Joline C. Dalton; Marcia K. Margolis; Veronica J. Hinton; Robert B. Weiss
卷第30卷
期第12期
印刷ISSN1059-7794
电子ISSN1098-1004
文件大小315.87KB
发表时间2009
DOI10.1002/humu.21114
页码1657-1666

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Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort