Clusters of intragenic Alu repeats predispose the human C1 inhibitor locus to deleterious rearrangements.
Frequent alterations in the structure of the complement component C1 inhibitor gene have been found in patients affected by the common variant of hereditary angioedema, characterized by low plasma levels of C1 inhibitor. This control protein limits the enzymic activity of the first component of comp...
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| Udgivet i: | Proc Natl Acad Sci U S A |
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| Principais autores: | , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
National Academy of Sciences
1990
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC53513/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2154751/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.87.4.1551 |
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