Quick MLPA test for quantification of SMN1 and SMN2 copy numbers

Molecular and Cellular Probes

Volumn 24, Issue 5, 2010, Pages 310-314

  Passon, Nadia ^a   Dubsky de Wittenau, Giorgia ^a   Jurman, Irena ^b   Radovic, Slobodanka ^a   Bregant, Elisa ^a   Molinis, Cristiano ^a   Damante, Giuseppe ^a,c   Lonigro, Incoronata Renata ^a,d  

^a UNIVERSITY OF UDINE   (Italy)

^b Istituto di Genomica Applicata   (Italy)

^c SANTA MARIA DELLA MISERICORDIA UNIVERSITY HOSPITAL   (Italy)

^d NATIONAL INSTITUTE OF BIOSTRUCTURES AND BIOSYSTEMS   (Italy)

Author keywords

MLPA; SMA; SMN1; SMN2; Spinal muscular atrophy

Indexed keywords

SURVIVAL MOTOR NEURON PROTEIN 1; SURVIVAL MOTOR NEURON PROTEIN 2;

ARTICLE; CONTROLLED STUDY; COPY NUMBER VARIATION; FEMALE; GENOTYPE; HUMAN; MALE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NORMAL HUMAN; PRIORITY JOURNAL;

DNA; DNA PROBES; FEMALE; GENE DOSAGE; GENETIC TESTING; HETEROZYGOTE; HETEROZYGOTE DETECTION; HUMANS; MALE; MUSCULAR ATROPHY, SPINAL; NUCLEIC ACID AMPLIFICATION TECHNIQUES; REPRODUCIBILITY OF RESULTS; SENSITIVITY AND SPECIFICITY; SURVIVAL OF MOTOR NEURON 1 PROTEIN; SURVIVAL OF MOTOR NEURON 2 PROTEIN;

EID: 77956061915     PISSN: 08908508     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.mcp.2010.07.001     Document Type: Article

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