Multiplex ligation-dependent probe amplification (MLPA) enhances the molecular diagnosis of aniridia and related disorders

Molecular Vision

Volumn 14, Issue , 2008, Pages 836-840

  Redeker, Egbert J W ^a   de Visser, Annette S H ^a   Bergen, Arthur A B ^a,b   Mannens, Marcel M A M ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b NETHERLANDS INSTITUTE FOR NEUROSCIENCE   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; TRANSCRIPTION FACTOR PAX6;

3' UNTRANSLATED REGION; ANIRIDIA; ARTICLE; AUTOANALYSIS; CONTROLLED STUDY; DNA ISOLATION; EXON; GENE AMPLIFICATION; GENE DELETION; GENETIC SCREENING; HUMAN; MAJOR CLINICAL STUDY; MOLECULAR PROBE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

ANIRIDIA; EXONS; EYE PROTEINS; HOMEODOMAIN PROTEINS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; PAIRED BOX TRANSCRIPTION FACTORS; POINT MUTATION; POLYMERASE CHAIN REACTION; REPRESSOR PROTEINS; SEQUENCE DELETION; WAGR SYNDROME;

EID: 43949143824     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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