Copy number variant analysis in CHM to detect duplications underlying choroideremia

Ophthalmic Genetics

Volumn 34, Issue 4, 2013, Pages 229-233

  Chi, Jonathan Y ^a   Macdonald, Ian M ^b   Hume, Stacey ^b  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b UNIVERSITY OF ALBERTA   (Canada)

Author keywords

Choroideremia; Duplication; MLPA; REP 1; Synthetic probes

Indexed keywords

ANTIBODY; REP 1 ANTIBODY; UNCLASSIFIED DRUG;

ARTICLE; ASSAY; CHOROIDEREMIA; CLINICAL ARTICLE; CLINICAL FEATURE; CODING; CONTROLLED STUDY; COPY NUMBER VARIATION; EXON; FEMALE; GENE; GENE DELETION; GENE DUPLICATION; HUMAN; IMMUNOBLOTTING; LEUKOCYTE; MALE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADOLESCENT; CHOROIDEREMIA; DNA COPY NUMBER VARIATIONS; DNA PROBES; EXONS; FEMALE; GENE DUPLICATION; HUMANS; MALE; MULTIPLEX POLYMERASE CHAIN REACTION; VISUAL ACUITY; VISUAL FIELDS;

EID: 84887920940     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.3109/13816810.2012.752016     Document Type: Article

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