TY  - GEN
AU  - Kao,Hung-Yi
AU  - Su,Yi-Ning
AU  - Liao,Hsin-Kai
AU  - Liu,Ming S
AU  - Chen,Yu-Ju
TI  - Determination of SMN1/SMN2 gene dosage by a quantitative genotyping platform combining capillary electrophoresis and MALDI-TOF mass spectrometry
SN  - 0009-9147
PY  - 2006///0413
KW  - Cyclic AMP Response Element-Binding Protein
KW  - genetics
KW  - Electrophoresis, Capillary
KW  - Gene Dosage
KW  - Genetic Testing
KW  - Genotype
KW  - Heterozygote
KW  - Humans
KW  - Muscular Atrophy, Spinal
KW  - diagnosis
KW  - Nerve Tissue Proteins
KW  - Polymorphism, Single Nucleotide
KW  - RNA-Binding Proteins
KW  - Reproducibility of Results
KW  - SMN Complex Proteins
KW  - Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
KW  - Spinal Muscular Atrophies of Childhood
KW  - Survival of Motor Neuron 1 Protein
KW  - Survival of Motor Neuron 2 Protein
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1373/clinchem.2005.061192
ER  -