Exome sequencing: An efficient diagnostic tool for complex neurodegenerative disorders

European Journal of Neurology

Volumn 20, Issue 3, 2013, Pages 486-492

  Hammer, M B ^a,b   Eleuch Fayache, G ^a   Gibbs, J R ^b,c   Arepalli, S K ^b   Chong, S B ^b   Sassi, C ^b,c   Bouhlal, Y ^d   Hentati, F ^a   Amouri, R ^a   Singleton, A B ^b  

^a Institut National de Neurologie Tunisia   (Tunisia)

^b NATIONAL INSTITUTE ON AGING   (United States)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

APOB; Ataxia; Exome sequencing; Mutation; SACS; SPG11

Indexed keywords

APOLIPOPROTEIN B;

ARTICLE; AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA; AUTOSOMAL RECESSIVE DISORDER; CEREBELLAR ATAXIA; DEGENERATIVE DISEASE; EXOME; EXOME SEQUENCING; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HOMOZYGOSITY; HUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SACS GENE; SINGLE NUCLEOTIDE POLYMORPHISM; SPG11 GENE; TUNISIA;

ADOLESCENT; AGE OF ONSET; AMINO ACID SEQUENCE; APOLIPOPROTEINS B; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; EXOME; FEMALE; GENOTYPE; HEAT-SHOCK PROTEINS; HUMANS; INFANT; MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEINS; SPINOCEREBELLAR ATAXIAS; YOUNG ADULT;

EID: 84873991913     PISSN: 13515101     EISSN: 14681331     Source Type: Journal    
DOI: 10.1111/j.1468-1331.2012.03883.x     Document Type: Article

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