Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome

Journal of Human Genetics

Volumn 55, Issue 7, 2010, Pages 421-427

  Sun, Huihui ^a   Zhang, Yuehua ^a   Liu, Xiaoyan ^a   Ma, Xiuwei ^a   Yang, Zhixian ^a   Qin, Jiong ^a   Jiang, Yuwu ^a   Qi, Yu ^a   Wu, Xiru ^a  

^a PEKING UNIVERSITY FIRST HOSPITAL   (China)

Author keywords

AS PCR; de novo mutation; DS; mutation; SCN1A

Indexed keywords

SODIUM CHANNEL NAV1.1;

ARTICLE; DNA ISOLATION; FAMILY HISTORY; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE DUPLICATION; GENE INSERTION; GENE MUTATION; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUTATION RATE; MYOCLONUS EPILEPSY; NONSENSE MUTATION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING;

ABNORMALITIES, MULTIPLE; ALLELES; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CHINA; CHROMOSOME SEGREGATION; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; NERVE TISSUE PROTEINS; PARENTS; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; SODIUM CHANNELS; SYNDROME;

EID: 77954976865     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1038/jhg.2010.39     Document Type: Article

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