Rapid diagnosis of CMT1A duplications and HNPP deletions by multiplex microsatellite PCR

Molecules and Cells

Volumn 23, Issue 1, 2007, Pages 39-48

  Choi, Byung Ok ^a   Kim, Joonki ^b   Lee, Kyung Lyong ^b,c   Yu, Jin Seok ^b   Hwang, Jung Hee ^b   Chung, Ki Wha ^b  

^a Ewha Womans University School of Medicine   (South Korea)

^b Kongju National University   (South Korea)

^c National Institute of Scientific Investigation   (South Korea)

Author keywords

Charcot Marie Tooth Disease (CMT); CMT1A; Hereditary Neuropathy with Liability to Pressure Palsied (HNPP); Hexaplex PCR; Microsatellite; PMP22

Indexed keywords

ALLELE; ANALYTICAL ERROR; ARTICLE; CALCULATION; CHROMOSOME 17P; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CONTROLLED STUDY; COST CONTROL; GENE AMPLIFICATION; GENE DELETION; GENE DUPLICATION; GENE FREQUENCY; GENOTYPE; HEREDITARY MOTOR SENSORY NEUROPATHY; HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MICROSATELLITE MARKER; MULTIPLEX POLYMERASE CHAIN REACTION; MUTATIONAL ANALYSIS; PERIPHERAL NEUROPATHY; PHENOTYPIC VARIATION; REAL TIME POLYMERASE CHAIN REACTION; REPRODUCIBILITY; TIME MANAGEMENT;

ALLELES; CHARCOT-MARIE-TOOTH DISEASE; CHROMOSOMES, HUMAN, PAIR 17; GENE DELETION; GENE DOSAGE; GENE DUPLICATION; GENE FREQUENCY; GENOME, HUMAN; HUMANS; MICROSATELLITE REPEATS; PEDIGREE; PERIPHERAL NERVOUS SYSTEM DISEASES; PHENOTYPE; POLYMERASE CHAIN REACTION; REPETITIVE SEQUENCES, NUCLEIC ACID;

HEXAPLEX;

EID: 33947395623     PISSN: 10168478     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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