Identification of deletion and duplication genotypes of the PMP22 gene using PCR-RFLP, competitive multiplex PCR, and multiplex ligation-dependent probe amplification: A comparison

Electrophoresis

Volumn 29, Issue 3, 2008, Pages 618-625

  Hung, Chia Cheng ^a   Lee, Chien Nan ^b   Lin, Chia Yun ^a   Cheng, Wen Fang ^b   Chen, Chi An ^b   Hsieh, Sung Tsang ^a,b   Yang, Chih Chao ^b   Jong, Yuh Jyh ^c,d   Su, Yi Ning ^a,b   Lin, Win Li ^a  

^a NATIONAL TAIWAN UNIVERSITY   (Taiwan)

^b NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

^c KAOHSIUNG MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

^d KAOHSIUNG MEDICAL UNIVERSITY   (Taiwan)

Author keywords

Deletion; Duplication; Multiplex ligation dependent probe amplification; PCR RFLP; PMP22 gene

Indexed keywords

DIAGNOSIS; MOLECULAR BIOLOGY; POLYMERASE CHAIN REACTION; PROBES;

CHARCOT-MARIE-TOOTH DISEASE; DELETION; DUPLICATION; GENE DOSAGE; MOLECULAR DIAGNOSIS; MULTIPLEX LIGATION-DEPENDENT PROBE AMPLIFICATION; PCR-RFLP; PMP22 GENE; PROBE AMPLIFICATION; SENSITIVITY AND SPECIFICITY;

GENES;

DNA; FIBROBLAST GROWTH FACTOR RECEPTOR 2; PERIPHERAL MYELIN PROTEIN 22;

ARTICLE; CAPILLARY ELECTROPHORESIS; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DIAGNOSTIC ERROR; GENE AMPLIFICATION; GENE DELETION; GENE DOSAGE; GENE DUPLICATION; GENETIC VARIABILITY; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; INTERMETHOD COMPARISON; MAJOR CLINICAL STUDY; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MULTIPLEX POLYMERASE CHAIN REACTION; NEUROPATHY; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; QUANTITATIVE ANALYSIS; RELIABILITY; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SENSITIVITY AND SPECIFICITY;

EID: 39449091574     PISSN: 01730835     EISSN: 15222683     Source Type: Journal    
DOI: 10.1002/elps.200700340     Document Type: Article

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