Mutation frequency for Charcot-Marie-Tooth disease type 1 in the Chinese population is similar to that in the global ethnic patients

Genetics in Medicine

Volumn 8, Issue 8, 2006, Pages 532-535

  Song, Shujuan ^a,d   Zhang, Yuanzhi ^a,d   Chen, Biao ^b   Zhang, Yuanjin ^c   Wang, Manjie ^a,d   Wang, Yueying ^a,d   Yan, Ming ^a,d   Zou, Junhua ^a,d   Huang, Yu ^a,d   Zhong, Nanbert ^a,d,e  

^a PEKING UNIVERSITY   (China)

^b CAPITAL MEDICAL UNIVERSITY   (China)

^c PEKING UNIVERSITY THIRD HOSPITAL   (China)

^d PEKING UNIVERSITY HEALTH SCIENCE CENTER   (China)

^e NEW YORK STATE INSTITUTE FOR BASIC RESEARCH IN DEVELOPMENTAL DISABILITIES   (United States)

Author keywords

Charcot Marie Tooth type 1 (CMT1); Chinese population; Genetic heterogeneity; Mutation frequency; Mutation screening

Indexed keywords

ARTICLE; CHINESE; CLINICAL ARTICLE; CONTROLLED STUDY; CX32 GENE; EGR2 GENE; ETHNIC DIFFERENCE; GENE; GENE DUPLICATION; GENE FREQUENCY; GENE IDENTIFICATION; GENE LOCUS; GENE MUTATION; GENETIC HETEROGENEITY; GJB1 GENE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; LITAF GENE; MPZ GENE; POINT MUTATION; SIMPLE GENE;

AMINO ACID SUBSTITUTION; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CHARCOT-MARIE-TOOTH DISEASE; CHINA; CONNEXINS; DNA; DNA MUTATIONAL ANALYSIS; EARLY GROWTH RESPONSE PROTEIN 2; ETHNIC GROUPS; FEMALE; GENE DUPLICATION; GENE FREQUENCY; HUMANS; MALE; MUTATION; MYELIN PROTEINS; NUCLEAR PROTEINS; POINT MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEINS; TRANSCRIPTION FACTORS;

EID: 33747232467     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.gim.0000232481.96287.89     Document Type: Article

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