Use of the MLPA assay in the molecular diagnosis of gene copy number alterations in human genetic diseases

International Journal of Molecular Sciences

Volumn 13, Issue 3, 2012, Pages 3245-3276

  Stuppia, Liborio ^a   Antonucci, Ivana ^a   Palka, Giandomenico ^a   Gatta, Valentina ^a  

^a UNIVERSITY OF CHIETI   (Italy)

Author keywords

CNV; Gene copy number; Genetic disease; MLPA; Molecular diagnosis

Indexed keywords

ANTHRACYCLINE;

ANEUPLOIDY; BECKER MUSCULAR DYSTROPHY; BREAST CARCINOMA; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DNA METHYLATION; DRUG SENSITIVITY; DUCHENNE MUSCULAR DYSTROPHY; EXON; FAMILIAL CANCER; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE DELETION; GENE DOSAGE; GENE DUPLICATION; GENE MUTATION; GENE REARRANGEMENT; GENETIC ANALYSIS; GENETIC DISORDER; GOLD STANDARD; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOTE DETECTION; HUMAN; INTERMETHOD COMPARISON; MOLECULAR DIAGNOSIS; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MULTIPLEX POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; REVIEW; SENSITIVITY AND SPECIFICITY; SHOX GENE; SOMATIC MUTATION; SPINAL MUSCULAR ATROPHY; STRUCTURAL CHROMOSOME ABERRATION; FEMALE; GENETIC DISEASES, INBORN; GENETICS; MALE; MUTATION; NEOPLASMS; NEUROMUSCULAR DISEASES; PREGNANCY; PROCEDURES;

DNA COPY NUMBER VARIATIONS; DNA METHYLATION; FEMALE; GENE DELETION; GENE DOSAGE; GENE DUPLICATION; GENETIC DISEASES, INBORN; HUMANS; MALE; MOLECULAR DIAGNOSTIC TECHNIQUES; MULTIPLEX POLYMERASE CHAIN REACTION; MUTATION; NEOPLASMS; NEUROMUSCULAR DISEASES; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 84858963631     PISSN: None     EISSN: 14220067     Source Type: Journal    
DOI: 10.3390/ijms13033245     Document Type: Review

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