The construction and preliminary investigation of the cell model of a novel mutation R675Q in the SCN4A gene identified in a Chinese family with normokalemic periodic paralysis

Chinese Journal of Medical Genetics

Volumn 25, Issue 6, 2008, Pages 629-632

  Wu, Lei ^a   Wu, Wei Ping ^b   Yan, Guang Tao ^b   Wang, Xiao Hui ^b   Liu, Jie Xiao ^b  

^a ZHEJIANG UNIVERSITY   (China)

^b Chinese PIA General Hospital   (China)

Author keywords

Cell model; Clamp patch; Normokalemic periodic paralysis

Indexed keywords

CALCIUM PHOSPHATE; POTASSIUM; SODIUM CHANNEL; SODIUM CHANNEL TYPE 4 SALPHA SUBUNIT; UNCLASSIFIED DRUG;

ARTICLE; CHINESE; CONTROLLED STUDY; FAMILY STUDY; GENE MUTATION; GENE SEQUENCE; HUMAN; HUMAN CELL; IN VITRO STUDY; PARALYSIS; POTASSIUM BLOOD LEVEL; SITE DIRECTED MUTAGENESIS; VOLTAGE CLAMP;

ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CELL LINE; ELECTRIC CONDUCTIVITY; FAMILY; HUMANS; MODELS, BIOLOGICAL; MUTATION; PARALYSES, FAMILIAL PERIODIC; PATCH-CLAMP TECHNIQUES; PLASMIDS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SODIUM CHANNELS; TRANSFECTION;

EID: 57849086459     PISSN: 10039406     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (11)

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