A generic assay for the identification of splicing variants that induce nonsense-mediated decay in Pompe disease

DNA variants affecting mRNA expression and processing in genetic diseases are often missed or poorly characterized. We previously reported a generic assay to identify variants that affect mRNA expression and splicing in Pompe disease, a monogenic disorder caused by deficiency of acid α-glucosidase (...

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Veröffentlicht in:	European journal of human genetics : EJHG 2021-03, Vol.29 (3), p.422-433
Hauptverfasser:	Bergsma, Atze J, In 't Groen, Stijn L M, Catalano, Fabio, Yamanaka, Manjiro, Takahashi, Satoru, Okumiya, Toshika, van der Ploeg, Ans T, Pijnappel, W W M Pim
Format:	Artikel
Sprache:	eng
Schlagworte:	alpha-Glucosidases - genetics alpha-Glucosidases - metabolism Antisense oligonucleotides Biopsy Cells, Cultured Cycloheximide Degradation Disease Enzymatic activity Exons Fibroblasts Fibroblasts - metabolism Gene expression Genetic counseling Genetic Testing - methods Glycogen Storage Disease Type II - diagnosis Glycogen Storage Disease Type II - genetics Glycogen Storage Disease Type II - metabolism Humans Identification Introns Laboratories Mutation Nonsense Mediated mRNA Decay Pediatrics Polymerase chain reaction RNA Splicing Splicing α-Glucosidase
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