Identification of a heterozygous genomic deletion in the spatacsin gene in SPG11 patients using high-resolution comparative genomic hybridization

Neurogenetics

Volumn 10, Issue 1, 2009, Pages 43-48

  Bauer, Peter ^a   Winner, Beate ^b   Schüle, Rebecca ^c   Bauer, Claudia ^a   Häfele, Veronika ^a   Hehr, Ute ^b   Bonin, Michael ^a   Walter, Michael ^a   Karle, Kathrin ^c   Ringer, Thomas M ^d   Rieß, Olaf ^a   Winkler, Jürgen ^e   Schöls, Ludger ^c  

^a UNIVERSITY OF TÜBINGEN   (Germany)

^b UNIVERSITY OF REGENSBURG   (Germany)

^c UNIVERSITY OF TÜBINGEN   (Germany)

^d FRIEDRICH SCHILLER UNIVERSITY JENA   (Germany)

^e UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

Author keywords

Genomic deletions; Hereditary spastic paraplegia type 11; High resolution; Tiling array

Indexed keywords

ADULT; ALLELE; ARTICLE; CHROMOSOME 15; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; EXON; FEMALE; GENE DELETION; HUMAN; MUTATOR GENE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SPASTIC PARAPLEGIA; SPATACSIN GENE;

EID: 58649118007     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10048-008-0144-2     Document Type: Article

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