Use of multiplex PCR and CE for gene dosage quantification and its biomedical application for SMN, PMP22, and α-globin genes

Electrophoresis

Volumn 28, Issue 16, 2007, Pages 2826-2834

  Hung, Chia Chen ^a   Chien, Shu Chin ^b   Lin, Chia Yun ^a   Chang, Chien Hui ^a   Chang, Yin Fei ^c   Jong, Yuh Jyh ^d,e   Hsieh, Sung Tsang ^a,c   Hsieh, Wu Shiun ^c   Liu, Ming S ^f   Lin, Win Lin ^a   Lee, Chien Nan ^c   Su, Yi Ning ^a,c  

^a NATIONAL TAIWAN UNIVERSITY   (Taiwan)

^b CHINA MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

^c NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

^d KAOHSIUNG MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

^e KAOHSIUNG MEDICAL UNIVERSITY   (Taiwan)

^f Institute eGene Inc   (United States)

Author keywords

CE; Gene dosage; Multiplex PCR PMP22; SMN gene; Globin gene

Indexed keywords

DIAGNOSIS; HEMOGLOBIN; MEDICAL APPLICATIONS; POLYMERASE CHAIN REACTION;

BIOMEDICAL APPLICATIONS; CE; GENE DOSAGE; GENETIC DISEASE; GLOBIN GENE; INSERTIONS AND DELETIONS; MULTIPLEX PCR PMP22; POINT MUTATIONS; SMN GENE; Α-GLOBIN GENE;

GENES;

ALPHA GLOBIN; PERIPHERAL MYELIN PROTEIN 22; SURVIVAL MOTOR NEURON PROTEIN;

ARTICLE; CAPILLARY ELECTROPHORESIS; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DIGEORGE SYNDROME; DOWN SYNDROME; GENE DELETION; GENE DOSAGE; GENE DUPLICATION; GENE IDENTIFICATION; GENE INSERTION; GENETIC CODE; GENETIC SCREENING; GENOME ANALYSIS; GENOTYPE; HUMAN; MULTIPLEX POLYMERASE CHAIN REACTION; MUTATIONAL ANALYSIS; POINT MUTATION; RELIABILITY; TRISOMY; TRISOMY 13;

EID: 34548281256     PISSN: 01730835     EISSN: 15222683     Source Type: Journal    
DOI: 10.1002/elps.200600647     Document Type: Article

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