Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita

Neuron

Volumn 8, Issue 5, 1992, Pages 891-897

  Ptáček, Louis J ^a,c   George Jr , Alfred L ^b,c   Barchi, Robert L ^c   Griggs, Robert C ^d   Riggs, Jack E ^e   Robertson, Margaret ^a   Leppert, Mark F ^a  

^a UNIVERSITY OF UTAH HEALTH SCIENCES CENTER   (United States)

^b HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^c UNIVERSITY OF PENNSYLVANIA   (United States)

^d UNIVERSITY OF ROCHESTER SCHOOL OF MEDICINE AND DENTISTRY   (United States)

^e WEST VIRGINIA UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; SINGLE STRANDED DNA; SODIUM CHANNEL;

ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; BASE PAIRING; CHROMOSOME; CODON; DNA POLYMORPHISM; DNA SEQUENCE; GENE MUTATION; GENETIC LINKAGE; HUMAN; HUMAN CELL; PERIODIC PARALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SKELETAL MUSCLE; THOMSEN DISEASE; TISSUE CULTURE;

ALLELES; AMINO ACID SEQUENCE; BASE SEQUENCE; CODON; DNA; EXONS; HUMAN; INTRONS; MOLECULAR SEQUENCE DATA; MUSCLES; MUTATION; MYOTONIA CONGENITA; NUCLEIC ACID CONFORMATION; POLYMORPHISM (GENETICS); SODIUM CHANNELS; SUPPORT, NON-U.S. GOV'T; SUPPORT, U.S. GOV'T, P.H.S.;

EID: 0026766904     PISSN: 08966273     EISSN: None     Source Type: Journal    
DOI: 10.1016/0896-6273(92)90203-P     Document Type: Article

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