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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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Levy, N J, Ramesh, N, Cicardi, M, Harrison, R A, Davis, A E
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 1990
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC53243/
https://ncbi.nlm.nih.gov/pubmed/2296585
Tagiau: Ychwanegu Tag
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