Inheritance of Charcot-Marie-tooth disease 1A with rare nonrecurrent genomic rearrangement

Neurogenetics

Volumn 12, Issue 1, 2011, Pages 51-58

  Choi, Byung Ok ^a   Kim, Nam Keun ^b   Park, Sun Wha ^c   Hyun, Young Se ^c   Jeon, Hyeon Jeong ^c   Hwang, Jung Hee ^d   Chung, Ki Wha ^c  

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

^b CHA University   (South Korea)

^c Kongju National University   (South Korea)

^d National Forensic Service   (South Korea)

Author keywords

Alu sequence; Charcot Marie Tooth disease 1A (CMT1A); Copy number variation; FoSTeS; MMBIR; Nonrecurrent rearrangement; PMP22

Indexed keywords

PERIPHERAL MYELIN PROTEIN 22;

ADULT; ARTICLE; CHROMOSOME 17P; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; COPY NUMBER VARIATION; FAMILY; FEMALE; GENE DUPLICATION; GENE REARRANGEMENT; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; INHERITANCE; KOREA; MEIOSIS; MICROSATELLITE MARKER; NERVE BIOPSY; NUCLEAR MAGNETIC RESONANCE IMAGING; PEDIGREE ANALYSIS; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; SEGREGATION ANALYSIS; SURAL NERVE;

ALU ELEMENTS; BASE SEQUENCE; CHARCOT-MARIE-TOOTH DISEASE; CHROMOSOMES, HUMAN, PAIR 17; COMPARATIVE GENOMIC HYBRIDIZATION; DNA; DNA COPY NUMBER VARIATIONS; FEMALE; GENE REARRANGEMENT; HUMANS; MALE; MODELS, GENETIC; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; REPUBLIC OF KOREA;

EID: 79951556097     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10048-010-0272-3     Document Type: Article

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