Homozygous hereditary C3 deficiency due to a partial gene deletion.

The molecular mechanism of C3 deficiency in an Afrikaans patient with recurrent pyogenic infections was studied. Restriction enzyme analysis showed a gene deletion of 800 base pairs (bp) mapping to the alpha chain of C3. Amplification of genomic DNA, using the PCR, demonstrated that the deletion inc...

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Hauptverfasser: Botto, M, Fong, K Y, So, A K, Barlow, R, Routier, R, Morley, B J, Walport, M J
Format: Artigo
Sprache:Inglês
Veröffentlicht: 1992
Schlagworte:
Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC49207/
https://ncbi.nlm.nih.gov/pubmed/1350678
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