Exome sequencing in an SCA14 family demonstrates its utilita in diagnosing heterogeneous diseases

Neurology

Volumn 79, Issue 2, 2012, Pages 127-131

  Sailer, Anna ^a   Scholz, Sonja W ^b,c   Gibbs, J Raphael ^a,c   Tucci, Arianna ^c   Johnson, Janel O ^c   Wood, Nicholas W ^a   Plagnol, Vincent ^a   Hummerich, Holger ^d   Ding, Jinhui ^c   Hernandez, Dena ^a,c   Hardy, John ^a   Federoff, Howard J ^b   Traynor, Bryan J ^c,e   Singleton, Andrew B ^c   Houlden, Henry ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b GEORGETOWN UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c NATIONAL INSTITUTE ON AGING   (United States)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e JOHNS HOPKINS HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; GLYCINE; PROTEIN KINASE C GAMMA;

ADULT; ARTICLE; CASE REPORT; CEREBELLAR ATAXIA; CONTROLLED STUDY; EXOME; EXOME SEQUENCING; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GENOME ANALYSIS; HUMAN; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; UNITED KINGDOM;

EID: 84866155335     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e31825f048e     Document Type: Article

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