关键词: CYBB Chronic granulomatous disease ESE SRSF1 X91(−)
Mesh : Codon, Nonsense Exons Granulomatous Disease, Chronic / genetics Humans Male Mutation NADPH Oxidase 2 / genetics Neutrophils / metabolism Phosphoproteins / genetics RNA Splicing / genetics Respiratory Burst Serine-Arginine Splicing Factors / genetics
来 源:
DOI:10.1016/j.bcmd.2017.08.012
PDF(Sci-hub)