Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: implications for molecular diagnosis.

@article{Crompton2010MultiplexLP,
  title={Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: implications for molecular diagnosis.},
  author={Danielle Crompton and Pauline K. Rehal and Lesley Macpherson and Katharine Foster and Peter Lunt and Iniguez Hughes and Angela F. Brady and Michael G. Pike and Susanna De Gressi and Neil V Morgan and Carol A Hardy and Matthew Raymond Smith and Fiona. Macdonald and Eamonn R Maher and Manju Ann Kurian},
  journal={Molecular genetics and metabolism},
  year={2010},
  volume={100 2},
  pages={
          207-12
        }
}
Phospholipase associated neurodegeneration (PLAN) comprises a heterogeneous group of autosomal recessive neurological disorders caused by mutations in the PLA2G6 gene. Direct gene sequencing detects approximately 85% mutations in infantile neuroaxonal dystrophy. We report the novel use of multiplex ligation-dependent probe amplification (MLPA) analysis to detect novel PLA2G6 duplications and deletions. The identification of such copy number variants (CNVs) expands the PLAN mutation spectrum and… CONTINUE READING
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