Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations. [electronic resource]
Producer: 20050729Description: 417-27 p. digitalISSN:- 1098-1004
- 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
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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