Multiplex ligation-dependent probe amplification for rapid detection of proteolipid protein 1 gene duplications and deletions in affected males and carrier females with Pelizaeus-Merzbacher disease

Clinical Chemistry

Volumn 52, Issue 7, 2006, Pages 1267-1275

  Warshawsky, Ilka ^a   Chernova, Olga B ^a   Hübner, Christian A ^b   Stindl, Reinhard ^c   Henneke, Marco ^d   Gal, Andreas ^b   Natowicz, Marvin R ^a  

^a LERNER RESEARCH INSTITUTE   (United States)

^b UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^c MEDICAL UNIVERSITY OF VIENNA   (Austria)

^d UNIVERSITY OF GÖTTINGEN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CONTROLLED STUDY; FEMALE; GENE; GENE AMPLIFICATION; GENE DELETION; GENE DUPLICATION; GENE SEQUENCE; GENETIC ANALYSIS; GENOTYPE; HETEROZYGOTE DETECTION; HUMAN; MAJOR CLINICAL STUDY; MALE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MULTIPLEX POLYMERASE CHAIN REACTION; PELIZAEUS MERZBACHER DISEASE; PLP1 GENE; POLYMERASE CHAIN REACTION; PROTEIN DETERMINATION; QUANTITATIVE ANALYSIS; SEQUENCE ANALYSIS;

CARRIER STATE; FEMALE; GENE DELETION; GENE DUPLICATION; HUMANS; MALE; MEMBRANE PROTEINS; MYELIN PROTEOLIPID PROTEIN; NUCLEIC ACID AMPLIFICATION TECHNIQUES; OLIGONUCLEOTIDE PROBES; PELIZAEUS-MERZBACHER DISEASE; REFERENCE VALUES;

EID: 33745453428     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1373/clinchem.2006.067967     Document Type: Article

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