Type II hereditary angioneurotic edema that may result from a single nucleotide change in the codon for alanine-436 in the C1 inhibitor gene.
Identical single-base changes in the C1 inhibitor gene that may result in dysfunctional inhibitor proteins are described in two different families with type II hereditary angioneurotic edema. Initially, a restriction fragment length polymorphism was defined that resulted from loss of a Pst I site wi...
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| 出版年: | Proc Natl Acad Sci U S A |
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| 主要な著者: | , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
National Academy of Sciences
1990
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC53243/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2296585/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.87.1.265 |
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