Evaluating the effect of spastin splice mutations by quantitative allele-specific expression assay

European Journal of Neurology

Volumn 18, Issue 1, 2011, Pages 99-105

  Klimpe, S ^a   Zibat, A ^b   Zechner, U ^a   Wellek, B ^a   Shoukier, M ^b   Sauter, S M ^b   Pantakani, D V K ^b   Mannan, A U ^b,c  

^a JOHANNES GUTENBERG UNIVERSITY   (Germany)

^b UNIVERSITY OF GÖTTINGEN   (Germany)

^c Deutsche Forschungsgemeinschaft   (Germany)

Author keywords

Hypomorphic; Leaky splicing; SPAST; Spastin; SPG4

Indexed keywords

SPASTIN;

ALLELE; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; GENE EXPRESSION; GENE MUTATION; GENETIC TRANSCRIPTION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING;

ADENOSINE TRIPHOSPHATASES; ADULT; ALLELES; EXONS; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA SPLICING; SPASTIC PARAPLEGIA, HEREDITARY;

EID: 78650122219     PISSN: 13515101     EISSN: 14681331     Source Type: Journal    
DOI: 10.1111/j.1468-1331.2010.03079.x     Document Type: Article

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