Expanding the clinical phenotype associated with ELOVL4 mutation: Study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia

JAMA Neurology

Volumn 71, Issue 4, 2014, Pages 470-475

  Cadieux Dion, Maxime ^a   Turcotte Gauthier, Maude ^a   Noreau, Anne ^b   Martin, Caroline ^a   Meloche, Caroline ^a   Gravel, Micheline ^a   Drouin, Christian Allen ^c   Rouleau, Guy A ^b   Nguyen, Dang Khoa ^a   Cossette, Patrick ^a  

^a CENTRE HOSPITALIER DE L UNIVERSITÉ DE MONTRÉAL   (Canada)

^b MCGILL UNIVERSITY   (Canada)

^c Department of Dermatology Grand Portage Hospital   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA;

ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE ACTIVITY; DISEASE ASSOCIATION; DISEASE SEVERITY; DNA SEQUENCE; ELOVL4 GENE; ERYTHROKERATODERMIA VARIABILIS; EXOME; FEMALE; GENE; GENE FUNCTION; GENE IDENTIFICATION; GENE MAPPING; GENE MUTATION; GENETIC LINKAGE; HETEROZYGOTE DETECTION; HUMAN; MAJOR CLINICAL STUDY; MALE; MOLECULAR DYNAMICS; MOLECULAR PATHOLOGY; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SPINOCEREBELLAR DEGENERATION;

AMINO ACID SEQUENCE; COHORT STUDIES; ERYTHROKERATODERMIA VARIABILIS; EYE PROTEINS; FEMALE; HETEROZYGOTE DETECTION; HUMANS; MALE; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; QUEBEC; SPINOCEREBELLAR ATAXIAS;

EID: 84899010104     PISSN: 21686149     EISSN: None     Source Type: Journal    
DOI: 10.1001/jamaneurol.2013.6337     Document Type: Article

References (28)

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