Alu-repeat-induced deletions within the NCF2 gene causing p67-phox-deficient chronic granulomatous disease (CGD). [electronic resource]
- Human mutation Feb 2010
- 151-8 p. digital
Publication Type: Journal Article
1098-1004
10.1002/humu.21156 doi
Alu Elements--genetics Base Sequence Cell Line Exons--genetics Gene Expression Regulation Granulomatous Disease, Chronic--enzymology Half-Life Humans Molecular Sequence Data Mutant Proteins--genetics NADPH Oxidases--genetics Phosphoproteins--chemistry Protein Stability Protein Structure, Secondary RNA Stability--genetics RNA, Messenger--genetics Reactive Oxygen Species--metabolism Recombination, Genetic--genetics Sequence Deletion--genetics