A novel mutation in CACNA1S gene associated with hypokalemic periodic paralysis which has a gender difference in the penetrance.

Journal of molecular neuroscience : MN

Volumn 46, Issue 2, 2012, Pages 378-383

  Li, Fei Feng ^a   Li, Qian Qian ^b   Tan, Zhen Xuan ^b   Zhang, Si Yao ^b   Liu, J ^b   Zhao, Er ying ^b   Yu, Gui Chun ^b   Zhou, Jin ^b   Zhang, Li Ming ^b   Liu, Shu Lin ^b  

^a HARBIN MEDICAL UNIVERSITY   (China)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

CACNA1S PROTEIN, HUMAN; CALCIUM CHANNEL;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; ASIAN; CHEMICAL STRUCTURE; CHEMISTRY; CHROMOSOME 1; DNA SEQUENCE; DOMINANT GENE; EXON; FEMALE; GENETICS; GENOTYPE; HAPLOTYPE; HUMAN; HYPOKALEMIC PERIODIC PARALYSIS; MALE; MIDDLE AGED; MISSENSE MUTATION; MOLECULAR GENETICS; PEDIGREE; PENETRANCE; PHYSIOLOGY; POINT MUTATION; PROTEIN CONFORMATION; SEQUENCE ALIGNMENT; SEQUENCE HOMOLOGY; SEXUAL DEVELOPMENT; SPECIES DIFFERENCE;

ADOLESCENT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ASIAN CONTINENTAL ANCESTRY GROUP; CALCIUM CHANNELS; CHROMOSOMES, HUMAN, PAIR 1; EXONS; FEMALE; GENES, DOMINANT; GENOTYPE; HAPLOTYPES; HUMANS; HYPOKALEMIC PERIODIC PARALYSIS; MALE; MIDDLE AGED; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; PENETRANCE; POINT MUTATION; PROTEIN CONFORMATION; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS, DNA; SEQUENCE HOMOLOGY, AMINO ACID; SEX CHARACTERISTICS; SPECIES SPECIFICITY; YOUNG ADULT;

EID: 84866165166     PISSN: None     EISSN: 15591166     Source Type: Journal    
DOI: 10.1007/s12031-011-9596-1     Document Type: Article

References (0)