Molecular diagnosis of PMP22 gene duplications and deletions: Comparison of different methods

Journal of International Medical Research

Volumn 37, Issue 5, 2009, Pages 1626-1631

  Herodež, Špela Stangler ^a   Zagradisnik B ^a   Škerget, A Erjavec ^a   Zagorac, A ^a   Vokač, N Kokalj ^a  

^a UNIVERSITY MEDICAL CENTRE MARIBOR   (Slovenia)

Author keywords

Fluorescent in situ hybridization; Gene dosage; Multiplex ligation dependent probe amplification; Peripheral neuropathies; PMP22 gene deletion; PMP22 gene duplication; Restriction fragment length polymorphism polymerase chain reaction assay

Indexed keywords

PERIPHERAL MYELIN PROTEIN 22;

ARTICLE; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DIAGNOSTIC PROCEDURE; FALSE NEGATIVE RESULT; FALSE POSITIVE RESULT; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE DUPLICATION; GENE LOCUS; GENETIC RECOMBINATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES; HUMAN; HUMAN CHROMOSOME; INTERMETHOD COMPARISON; INTERPHASE CHROMOSOME; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PERIPHERAL NEUROPATHY; POLYMERASE CHAIN REACTION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

EID: 70449631638     PISSN: 03000605     EISSN: None     Source Type: Journal    
DOI: 10.1177/147323000903700542     Document Type: Article

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