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Autosomal recessive chronic granulomatous disease caused by deletion at a dinucleotide repeat.

Chronic granulomatous disease (CGD) is a rare inherited condition rendering neutrophils incapable of killing invading pathogens. This condition is due to the failure of a multicomponent microbicidal oxidase that normally yields a low-midpoint-potential b cytochrome (cytochrome b245). Although defect...

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Udgivet i:Proc Natl Acad Sci U S A
Principais autores: Casimir, C M, Bu-Ghanim, H N, Rodaway, A R, Bentley, D L, Rowe, P, Segal, A W
Format: Artigo
Sprog:Inglês
Udgivet: National Academy of Sciences 1991
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC51317/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2011585/
https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.88.7.2753
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