Article
Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: implications for molecular diagnosis.
Molecular genetics and metabolism - 1 Jun 2010
Crompton Danielle, Rehal Pauline K, MacPherson Lesley, Foster Katharine, Lunt Peter, Hughes Imelda, Brady Angela F, Pike Michael G, De Gressi Susanna, Morgan Neil V, Hardy Carol, Smith Matthew, MacDonald Fiona, Maher Eamonn R, Kurian Manju A
Abstract excerpt
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...
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