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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izdano v:	Proc Natl Acad Sci U S A
Principais autores:	Levy, N J, Ramesh, N, Cicardi, M, Harrison, R A, Davis, A E
Format:	Artigo
Jezik:	Inglês
Izdano:	National Academy of Sciences 1990
Teme:	Research Article
Online dostop:	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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