Stasia, Marie José

Rare duplication or deletion of exons 6, 7 and 8 in CYBB leading to X-linked chronic granulomatous disease in two patients from different families. [electronic resource] - Journal of clinical immunology Aug 2012 - 653-62 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1573-2592

10.1007/s10875-012-9667-2 doi


Adolescent
Child
Exons
Gene Duplication
Genetic Diseases, X-Linked--genetics
Genetic Predisposition to Disease
Granulomatous Disease, Chronic--genetics
Humans
Male
Membrane Glycoproteins--genetics
Mutation
NADPH Oxidase 2
NADPH Oxidases--genetics
Sequence Deletion