Identification of a novel frameshift mutation in the DMD gene as the cause of muscular dystrophy in a Norfolk terrier dog

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• 作者：Christopher A Jenkins ; Oliver P Forman
• 关键词：Dystrophin ; DMD ; Norfolk terrier ; Muscular dystrophy ; Mutation
• 刊名：Canine Genetics and Epidemiology
• 出版年：2015
• 出版时间：December 2015
• 年：2015
• 卷：2
• 期：1
• 全文大小：2907KB
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• 作者单位：Christopher A Jenkins (1)
  Oliver P Forman (1)
  
  1. Kennel Club Genetics Centre, Animal Health Trust, Kentford, Newmarket, Suffolk, CB8 7UU, UK
  
• 刊物类别：Gene Function; Veterinary Medicine;
• 刊物主题：Gene Function; Veterinary Medicine;
• 出版者：BioMed Central
• ISSN：2052-6687

文摘

Background A Norfolk terrier was referred to the Animal Health Trust neurology department with suspected dystrophin-deficient muscular dystrophy (DD-MD), which was confirmed by clinical workup and immunohistochemistry.