A p47-phox pseudogene carries the most common mutation causing p47-phox- deficient chronic granulomatous disease.

The predominant genetic defect causing p47-phox-deficient chronic granulomatous disease (A47 degrees CGD) is a GT deletion (DeltaGT) at the beginning of exon 2. No explanation exists to account for the high incidence of this single mutation causing a rare disease in an unrelated, racially diverse po...

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Detalhes bibliográficos
Main Authors: Görlach, A, Lee, P L, Roesler, J, Hopkins, P J, Christensen, B, Green, E D, Chanock, S J, Curnutte, J T
Formato: Artigo
Idioma:Inglês
Publicado em: 1997
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC508379/
https://ncbi.nlm.nih.gov/pubmed/9329953
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