A de novo missense mutation (R1623Q) of the SCN5A gene in a Japanese girl with sporadic long QT sydrome. Mutations in brief no. 140. Online.

Human mutation

Volumn 11, Issue 6, 1998, Pages 481-

  Yamagishi, H ^a   Furutani, M ^a   Kamisago, M ^a   Morikawa, Y ^a   Kojima, Y ^a   Hino, Y ^a   Furutani, Y ^a   Kimura, M ^a   Imamura, S ^a   Takao, A ^a   Momma, K ^a   Matsuoka, R ^a  

^a KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; GLUTAMINE; SODIUM CHANNEL; VOLTAGE GATED NA+ CHANNEL NA(V)1.5A; VOLTAGE-GATED NA+ CHANNEL NA(V)1.5A;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHEMISTRY; FEMALE; GENE DELETION; GENETICS; HUMAN; LONG QT SYNDROME; MISSENSE MUTATION; PATHOLOGY; SINGLE STRAND CONFORMATION POLYMORPHISM;

AMINO ACID SUBSTITUTION; ARGININE; FEMALE; GLUTAMINE; HUMANS; LONG QT SYNDROME; MUTATION, MISSENSE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SEQUENCE DELETION; SODIUM CHANNELS;

MLCS; MLOWN;

EID: 0344357678     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(sici)1098-1004(1998)11:6<481::aid-humu12>3.0.co;2-q     Document Type: Article

References (0)