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Volumn 24, Issue 18, 2015, Pages 5326-5329

The CACNA1B R1389H variant is not associated with myoclonus-dystonia in a large European multicentric cohort

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CACNA1B GENE; CONTROLLED STUDY; COPY NUMBER VARIATION; EXON; FAMILY HISTORY; FEMALE; GENE; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; MAJOR CLINICAL STUDY; MULTICENTER STUDY; MYOCLONUS DYSTONIA; PEDIGREE; POINT MUTATION; PRIORITY JOURNAL; ALLELE; AMINO ACID SUBSTITUTION; CLINICAL TRIAL; CODON; COHORT ANALYSIS; DYSTONIC DISORDERS; EUROPE; EXOME; GENE FREQUENCY; GENETIC ASSOCIATION STUDY; GENETICS; GENOTYPE; HIGH THROUGHPUT SEQUENCING; MALE; MUTATION;

EID: 84940661162     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddv255     Document Type: Article
Times cited : (29)

References (15)
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  • 12
    • 77953120288 scopus 로고    scopus 로고
    • Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay
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  • 13
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    • Chromosome 9q33q34 microdeletion with early infantile epileptic encephalopathy, severe dystonia, abnormal eye movements, and nephroureteral malformations
    • Matsumoto, H., Zaha, K., Nakamura, Y., Hayashi, S., Inazawa, J. and Nonoyama, S. (2014) Chromosome 9q33q34 microdeletion with early infantile epileptic encephalopathy, severe dystonia, abnormal eye movements, and nephroureteral malformations. Pediatr. Neurol., 51, 170-175.
    • (2014) Pediatr. Neurol , vol.51 , pp. 170-175
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.