Improved detection of deletions and duplications in the DMD gene using the multiplex ligation-dependent probe amplification (MLPA) method

Biochemical Genetics

Volumn 51, Issue 3-4, 2013, Pages 189-201

  Sansović, Ivona ^a   Barišić, Ingeborg ^a   Dumić, Katja ^a  

^a Alergologiju I Reumatologiju S Klini kom Imunologijom   (Croatia)

Author keywords

DMD; MLPA; Multiplex PCR; Muscular dystrophy

Indexed keywords

DYSTROPHIN;

ARTICLE; BECKER MUSCULAR DYSTROPHY; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC TEST ACCURACY STUDY; DMD GENE; DUCHENNE MUSCULAR DYSTROPHY; EXON; FEMALE; GENE DELETION; GENE DUPLICATION; GENE IDENTIFICATION; GENE MUTATION; GENE REARRANGEMENT; GENETIC SCREENING; HETEROZYGOTE; HUMAN; MALE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MULTIPLEX POLYMERASE CHAIN REACTION; NUCLEOTIDE SEQUENCE; VALIDATION PROCESS;

DYSTROPHIN; EXONS; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE DUPLICATION; HETEROZYGOTE DETECTION; HUMANS; MALE; MULTIPLEX POLYMERASE CHAIN REACTION; MUSCULAR DYSTROPHY, DUCHENNE; REPRODUCIBILITY OF RESULTS; RETROSPECTIVE STUDIES;

EID: 84876669144     PISSN: 00062928     EISSN: 15734927     Source Type: Journal    
DOI: 10.1007/s10528-012-9554-9     Document Type: Article

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