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Article

Identification of a donor splice site mutation leading to loss of p22-phox exon 5 in autosomal chronic granulomatous disease.

Human mutation - 1 Jan 1996

Porter C D, Parkar M H, Kinnon C

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Share to DNA Primers
Share to Gene Deletion
Share to Granulomatous Disease, Chronic
Share to Membrane Transport Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 8723692
DOI: 10.1002/humu.1380070402

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A new autosomal recessive, heterozygous pair of mutations of CYBA in a patient with chronic granulomatous disease.Semantic proximity Read ↗

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