Study on novel mutation of CACNA1A gene in familial hemiplegic migraine / 重庆医学
Chongqing Medicine
;
(36): 1348-1349,1352, 2016.
Artigo
em Chinês
| WPRIM
| ID: wpr-604011
ABSTRACT
Objective To investigate the relationship between familial hemiplegic migraine (FHM ) with the mutation of CACNA1A gene .Methods Total genomic DNA of a family affected members and 1 000 normal controls was extracted for conduc‐ting the CACNA1A gene sequencing research and the bioinformatics analysis .Results The novel mutation site c .1168A>G of ex‐on located in CACNA1A gene led to Asn to be replaced with Asp (N390D) .Conclusion The mutation(N390D) of CACNA1A gene is a newly found novel pathogenic mutation lead to familial hemiplegic migraine .
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Idioma:
Chinês
Revista:
Chongqing Medicine
Ano de publicação:
2016
Tipo de documento:
Artigo
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