Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations. [electronic resource]
- Human mutation Nov 2004
- 417-27 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1098-1004
10.1002/humu.20092 doi
Automation Chromatography, High Pressure Liquid Chromosomes, Human, Pair 5--genetics Cyclic AMP Response Element-Binding Protein--genetics DNA Mutational Analysis--methods Genetic Testing--methods Haplotypes--genetics Homozygote Humans Molecular Sequence Data Muscular Atrophy, Spinal--genetics Mutation--genetics Nerve Tissue Proteins--genetics Polymerase Chain Reaction RNA-Binding Proteins--genetics SMN Complex Proteins Sensitivity and Specificity Sequence Deletion--genetics Survival of Motor Neuron 1 Protein Survival of Motor Neuron 2 Protein Time Factors