Quantitative real-time PCR and GNPTG western blot analysis confirmed that the homozygous microdeletion p.G204VfsX17 had elicited NMD resulting in failure to synthesize GNPTG protein .
O O O O B-GeneOrGeneProduct O O O O O O O O B-SequenceVariant O O O O O O O O B-GeneOrGeneProduct O O