The identification of deleterious mutations within candidate genes is a crucial step in the elucidation of the genetic bases of human disease. However, the significance of any base or amino acid change within a gene is unknown until detailed structural and functional analysis has been carried out. A
β¦ LIBER β¦
Missense Mutations in Disease Genes: A Bayesian Approach to Evaluate Causality
β Scribed by Gloria M. Petersen; Giovanni Parmigiani; Duncan Thomas
- Book ID
- 117852421
- Publisher
- American Society of Human Genetics
- Year
- 1998
- Tongue
- English
- Weight
- 237 KB
- Volume
- 62
- Category
- Article
- ISSN
- 0002-9297
- DOI
- 10.1086/301871
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## Abstract Rippling muscle disease (RMD) is a benign myopathy with symptoms and signs of muscular hyperirritability. We report a 17βyearβold patient who presented with muscular hypertrophy, local mounding on percussion, and a rippling phenomenon. Needle electromyography showed electrical silence d