Determination of SMN1/SMN2 gene dosage by a quantitative genotyping platform combining capillary electrophoresis and MALDI-TOF mass spectromy

Clinical Chemistry

Volumn 52, Issue 3, 2006, Pages 361-369

  Kao, Hung Yi ^a,b   Su, Yi Ning ^c   Liao, Hsin Kai ^a   Liu, Ming S ^d   Chen, Yu Ju ^a,e  

^a INSTITUTE OF CHEMISTRY   (Taiwan)

^b NATIONAL TSING HUA UNIVERSITY   (Taiwan)

^c NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

^d Institute eGene Inc   (United States)

^e NATIONAL CHUNG HSING UNIVERSITY   (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CAPILLARY ELECTROPHORESIS; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; GENE DOSAGE; GENE IDENTIFICATION; GENETIC COUNSELING; GENETIC LINKAGE; GENOTYPE; HEREDITARY SPINAL MUSCULAR ATROPHY; HETEROZYGOTE; HUMAN; HUMAN GENOME; MATRIX ASSISTED LASER DESORPTION IONIZATION TIME OF FLIGHT MASS SPECTROMETRY; PINPOINT ASSAY; QUANTITATIVE ASSAY; SMN1 GENE; SMN2 GENE;

CYCLIC AMP RESPONSE ELEMENT-BINDING PROTEIN; ELECTROPHORESIS, CAPILLARY; GENE DOSAGE; GENETIC SCREENING; GENOTYPE; HETEROZYGOTE; HUMANS; MUSCULAR ATROPHY, SPINAL; NERVE TISSUE PROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE; REPRODUCIBILITY OF RESULTS; RNA-BINDING PROTEINS; SPECTROMETRY, MASS, MATRIX-ASSISTED LASER DESORPTION-IONIZATION; SPINAL MUSCULAR ATROPHIES OF CHILDHOOD;

EID: 33644505172     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1373/clinchem.2005.061192     Document Type: Article

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