Kao, Hung-Yi

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