A novel RAB7 mutation in a Chinese family with Charcot-Marie-Tooth type 2B disease

Gene

Volumn 534, Issue 2, 2014, Pages 431-434

  Wang, Xing ^a   Han, Chunmao ^b   Liu, Wenqiang ^a   Wang, Ping ^c   Zhang, Xianqin ^a  

^a HUAZHONG UNIVERSITY OF SCIENCE AND TECHNOLOGY   (China)

^b THE SECOND AFFILIATED HOSPITAL OF ZHEJIANG UNIVERSITY SCHOOL OF MEDICINE   (China)

^c Laiyang Central Hospital   (China)

Author keywords

Charcot Marie Tooth 2B disease; Linkage; Mutation; RAB7 gene

Indexed keywords

GENOMIC DNA; GUANOSINE TRIPHOSPHATASE; RAB7 PROTEIN;

ADULT; ARTICLE; CHARCOT MARIE TOOTH TYPE 2B DISEASE; CHINESE; DNA SEQUENCE; ELECTROMYOGRAPHY; FAMILY; FEMALE; GENE FREQUENCY; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN EXPERIMENT; LEG; MOTOR NERVE CONDUCTION; PERONEUS NERVE; PRIORITY JOURNAL; SENSORY NERVE CONDUCTION; TIBIAL NERVE;

AMINO ACID SEQUENCE; ASIAN CONTINENTAL ANCESTRY GROUP; CHARCOT-MARIE-TOOTH DISEASE; FEMALE; HUMANS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; RAB GTP-BINDING PROTEINS; SEQUENCE ALIGNMENT;

EID: 84890426290     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2013.10.023     Document Type: Article

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