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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Bibliografische gegevens

Gepubliceerd in:	J Clin Invest
Hoofdauteurs:	Görlach, A, Lee, P L, Roesler, J, Hopkins, P J, Christensen, B, Green, E D, Chanock, S J, Curnutte, J T
Formaat:	Artigo
Taal:	Inglês
Gepubliceerd in:	American Society for Clinical Investigation 1997
Onderwerpen:	Research Article
Online toegang:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC508379/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/9329953/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI119721
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