Characterization of a new sodium channel mutation at arginine 1448 associated with moderate paramyotonia congenita in humans

Journal of Physiology

Volumn 518, Issue 2, 1999, Pages 337-344

  Bendahhou, Saïd ^a   Cummins, Theodore R ^b,c   Kwiecinski, Hubert ^d   Waxman, Stephen G ^b,c   Ptácek, Louis J ^a  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^b YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c VA CONNECTICUT HEALTHCARE SYSTEM   (United States)

^d MEDICAL UNIVERSITY OF WARSAW   (Poland)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; SERINE; SODIUM CHANNEL;

ADOLESCENT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CONTROLLED STUDY; DNA DETERMINATION; DNA SEQUENCE; EMBRYO CELL; GENE MUTATION; HUMAN; HUMAN CELL; HYPERPOLARIZATION; KIDNEY CELL; MISSENSE MUTATION; MUSCLE DISEASE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SINGLE STRAND CONFORMATION POLYMORPHISM; SKELETAL MUSCLE; SODIUM CURRENT; THOMSEN DISEASE;

EID: 0033565822     PISSN: 00223751     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1469-7793.1999.0337p.x     Document Type: Article

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