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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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Internet
https://ncbi.nlm.nih.gov/pmc/articles/PMC53243/https://ncbi.nlm.nih.gov/pubmed/2296585
https://ncbi.nlm.nih.gov/pmc/articles/PMC53244/
https://ncbi.nlm.nih.gov/pubmed/2296586
https://ncbi.nlm.nih.gov/pmc/articles/PMC53245/
https://ncbi.nlm.nih.gov/pubmed/2153288
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https://ncbi.nlm.nih.gov/pubmed/2153289
https://ncbi.nlm.nih.gov/pmc/articles/PMC53247/
https://ncbi.nlm.nih.gov/pubmed/2404279
https://ncbi.nlm.nih.gov/pmc/articles/PMC53248/
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https://ncbi.nlm.nih.gov/pmc/articles/PMC53250/
https://ncbi.nlm.nih.gov/pubmed/2296587
https://ncbi.nlm.nih.gov/pmc/articles/PMC53251/
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https://ncbi.nlm.nih.gov/pmc/articles/PMC53254/
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https://ncbi.nlm.nih.gov/pmc/articles/PMC53261/
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https://ncbi.nlm.nih.gov/pmc/articles/PMC53262/
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https://ncbi.nlm.nih.gov/pmc/articles/PMC53263/
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https://ncbi.nlm.nih.gov/pmc/articles/PMC53264/
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https://ncbi.nlm.nih.gov/pmc/articles/PMC53266/
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https://ncbi.nlm.nih.gov/pmc/articles/PMC53267/
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https://ncbi.nlm.nih.gov/pmc/articles/PMC53276/
https://ncbi.nlm.nih.gov/pubmed/2153302
https://ncbi.nlm.nih.gov/pmc/articles/PMC53277/
https://ncbi.nlm.nih.gov/pubmed/2296597
https://ncbi.nlm.nih.gov/pmc/articles/PMC53278/
https://ncbi.nlm.nih.gov/pubmed/2296598
https://ncbi.nlm.nih.gov/pmc/articles/PMC53279/
https://ncbi.nlm.nih.gov/pubmed/2296599
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https://ncbi.nlm.nih.gov/pubmed/2296600
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https://ncbi.nlm.nih.gov/pubmed/2296601
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https://ncbi.nlm.nih.gov/pubmed/2104984
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https://ncbi.nlm.nih.gov/pubmed/2153303
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https://ncbi.nlm.nih.gov/pubmed/2404282
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https://ncbi.nlm.nih.gov/pubmed/2404283
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https://ncbi.nlm.nih.gov/pubmed/2296603
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https://ncbi.nlm.nih.gov/pubmed/2296604
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https://ncbi.nlm.nih.gov/pubmed/2404284
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https://ncbi.nlm.nih.gov/pubmed/16578846