MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: Potential and pitfalls

Neurogenetics

Volumn 6, Issue 1, 2005, Pages 29-35

  Janssen, B ^a   Hartmann, C ^a   Scholz, V ^a   Jauch, A ^a   Zschocke, J ^a  

^a UNIVERSITY OF HEIDELBERG   (Germany)

Author keywords

Becker muscular dystrophy; Duchenne muscular dystrophy; Genetics; Molecular diagnostic techniques; Molecular diagnostic testing

Indexed keywords

DYSTROPHIN; PARAFFIN;

ALLELE; ARTICLE; BECKER MUSCULAR DYSTROPHY; BLOOD SAMPLING; CHORION VILLUS; CLINICAL ARTICLE; CLINICAL TRIAL; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; DNA POLYMORPHISM; DUCHENNE MUSCULAR DYSTROPHY; EMBEDDING; EXON; FAMILY; FEMALE; FETUS; FLUORESCENCE IN SITU HYBRIDIZATION; GENE AMPLIFICATION; GENE DELETION; GENE DUPLICATION; GENE IDENTIFICATION; GENE REARRANGEMENT; HETEROZYGOTE; HUMAN; INTERMETHOD COMPARISON; MAJOR CLINICAL STUDY; MALE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NONSENSE MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROSPECTIVE STUDY; PROTEIN ANALYSIS; RETROSPECTIVE STUDY; SENSITIVITY ANALYSIS; SIGNAL DETECTION;

DNA PRIMERS; DYSTROPHIN; EXONS; FEMALE; GENE AMPLIFICATION; GENE DUPLICATION; GENE REARRANGEMENT; HETEROZYGOTE DETECTION; HUMANS; MALE; MUSCULAR DYSTROPHY, DUCHENNE; MUTATION; POLYMERASE CHAIN REACTION; SEQUENCE DELETION; TRINUCLEOTIDE REPEATS;

EID: 15444370412     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10048-004-0204-1     Document Type: Article

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