关键词: BMD Becker muscular dystrophy Bioinformatics DMD Direct sequencing Duchenne muscular dystrophy ESE Exonic Splicing Enhancer HSF Human Splicing Finder MLPA Missense mutation Multiplex Ligation-dependent Probe Amplification Panther PolyPhen Polymorphism Phenotyping Protein ANalysis THrough Evolutionary Relationships SIFT SNAP Sorting Intolerant From Tolerant screening for non-acceptable polymorphisms
Mesh : Algorithms Alleles Amino Acid Sequence Computer Simulation Consensus Sequence DNA Mutational Analysis Developing Countries Dystrophin / chemistry genetics Exons Humans Male Models, Genetic Molecular Sequence Data Muscular Dystrophy, Duchenne / diagnosis genetics Mutation, Missense Position-Specific Scoring Matrices Prognosis Sequence Alignment
来 源: DOI:10.1016/j.gene.2013.11.022