Determination of SMN1/SMN2 gene dosage by a quantitative genotyping platform combining capillary electrophoresis and MALDI-TOF mass spectrometry. [electronic resource]
- Clinical chemistry Mar 2006
- 361-9 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
0009-9147
10.1373/clinchem.2005.061192 doi
Cyclic AMP Response Element-Binding Protein--genetics Electrophoresis, Capillary Gene Dosage Genetic Testing Genotype Heterozygote Humans Muscular Atrophy, Spinal--diagnosis Nerve Tissue Proteins--genetics Polymorphism, Single Nucleotide RNA-Binding Proteins--genetics Reproducibility of Results SMN Complex Proteins Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization Spinal Muscular Atrophies of Childhood--diagnosis Survival of Motor Neuron 1 Protein Survival of Motor Neuron 2 Protein