Heterozygous nonsense SCN5A mutation W822X explains a simultaneous sudden infant death syndrome

Virchows Archiv

Volumn 453, Issue 2, 2008, Pages 209-216

  Turillazzi, Emanuela ^a   La Rocca, Giampiero ^b   Anzalone, Rita ^b   Corrao, Simona ^b   Neri, Margherita ^a   Pomara, Cristoforo ^a   Riezzo, Irene ^a   Karch, Steven B ^c   Fineschi, Vittorio ^a  

^a UNIVERSITY OF FOGGIA   (Italy)

^b UNIVERSITY OF PALERMO   (Italy)

^c NONE   (United States)

Author keywords

Nav1.5 protein function; Na+ channel function; SCN5A gene mutation; Simultaneous sudden infant death syndrome; W822X mutation

Indexed keywords

VOLTAGE GATED SODIUM CHANNEL; VOLTAGE GATED SODIUM CHANNEL SCN 5A;

ARTICLE; CASE REPORT; CONTROLLED STUDY; GENETIC SCREENING; HEART; HEART MUSCLE CELL; HETEROZYGOTE; HUMAN; IMMUNOHISTOCHEMISTRY; INFANT; MALE; MONOZYGOTIC TWINS; NICK END LABELING; NONSENSE MUTATION; PRIORITY JOURNAL; PROTEIN LOCALIZATION; SUDDEN INFANT DEATH SYNDROME;

CODON, NONSENSE; DISEASES IN TWINS; HUMANS; INFANT; MALE; MUSCLE PROTEINS; SODIUM CHANNELS; SUDDEN INFANT DEATH;

EID: 49349104847     PISSN: 09456317     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00428-008-0632-7     Document Type: Article

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