Quantitative analysis of SMN1 and SMN2 genes based on DHPLC: A highly efficient and reliable carrier-screening test

Human Mutation

Volumn 25, Issue 5, 2005, Pages 460-467

  Su, Yi Ning ^a   Hung, Chia Cheng ^b   Li, Hung ^c   Lee, Chien Nan ^a   Cheng, Wen Fang ^a   Tsao, Po Nien ^a   Chang, Ming Cheng ^a   Yu, Chia Li ^a   Hsieh, Wu Shiun ^a   Lin, Win Li ^b   Hsu, Su Ming ^a  

^a NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

^b NATIONAL TAIWAN UNIVERSITY   (Taiwan)

^c INSTITUTE OF MOLECULAR BIOLOGY   (Taiwan)

Author keywords

DHPLC; Gene dosage; SMA; SMN1; SMN2; Spinal muscular atrophy

Indexed keywords

SURVIVAL MOTOR NEURON PROTEIN; SURVIVAL MOTOR NEURON PROTEIN 1; SURVIVAL MOTOR NEURON PROTEIN 2; UNCLASSIFIED DRUG;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; CYBB GENE; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; EXON; GENE; GENE AMPLIFICATION; GENE CONVERSION; GENE DELETION; GENE DOSAGE; HUMAN; KRIT1 GENE; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; POPULATION RESEARCH; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; SCREENING TEST; SPINAL MUSCULAR ATROPHY;

CHROMATOGRAPHY, HIGH PRESSURE LIQUID; CYCLIC AMP RESPONSE ELEMENT-BINDING PROTEIN; FEMALE; GENE DOSAGE; GENETIC SCREENING; HETEROZYGOTE DETECTION; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUSCULAR ATROPHY, SPINAL; NERVE TISSUE PROTEINS; PEDIGREE; RNA-BINDING PROTEINS;

EID: 21044456460     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20160     Document Type: Article

References (21)

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