Alu-repeat-induced deletions within the NCF2 gene causing p67-phox-deficient chronic granulomatous disease (CGD).

Gentsch, Marcus

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