Exon deletions and intragenic insertions are not rare in ataxia with oculomotor apraxia 2

BMC Medical Genetics

Volumn 10, Issue , 2009, Pages 87-

  Bernard, Veronica ^a   Minnerop, Martina ^b,c   Bürk, Katrin ^d   Kreuz, Friedmar ^e   Gillessen Kaesbach, Gabriele ^a   Zühlke, Christine ^a  

^a UNIVERSITY OF LÜBECK   (Germany)

^b UNIVERSITY OF BONN   (Germany)

^c FORSCHUNGSZENTRUM JÜLICH   (Germany)

^d PHILIPPS UNIVERSITY MARBURG   (Germany)

^e Gemeinschaftspraxis Fü R Humangenetik   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; GENE PRODUCT; GENOMIC DNA; SENATAXIN; UNCLASSIFIED DRUG; RNA HELICASE; SETX PROTEIN, HUMAN;

ADULT; AMINO ACID SEQUENCE; ARTICLE; ATAXIA WITH OCULOMOTOR APRAXIA 2; CASE REPORT; CONTROLLED STUDY; DEGENERATIVE DISEASE; DYSARTHRIA; EXON; FEMALE; GAIT DISORDER; GENE DELETION; GENE DOSAGE; GENE INSERTION; GENETIC ASSOCIATION; GENOME SIZE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; INTRON; MALE; MUTATIONAL ANALYSIS; NEUROPATHY; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; SEQUENCE ANALYSIS; APRAXIA; CEREBELLAR ATAXIA; DNA SEQUENCE; GENETICS; INDEL MUTATION; OCULOMOTOR NERVE DISEASE;

ADULT; APRAXIAS; CEREBELLAR ATAXIA; EXONS; FEMALE; GENE DOSAGE; HUMANS; INDEL MUTATION; MALE; OCULOMOTOR NERVE DISEASES; RNA HELICASES; SEQUENCE ANALYSIS, DNA;

EID: 70349325681     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-10-87     Document Type: Article

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