A Point Mutation in the Cl-inhibitor Gene Causes Type I Hereditary Angiooedema

Autor:	J. E. Fothergill, K. Whaley, A.R. McPhaden, Z. Siddique
Rok vydání:	1993
Předmět:	chemistry.chemical_classification Genetics Point mutation Nucleic acid sequence Biology Gene mutation Molecular biology law.invention chemistry law Mutation (genetic algorithm) Missense mutation Nucleotide Gene Genetics (clinical) Polymerase chain reaction
Zdroj:	Human Heredity. 43:155-158
ISSN:	1423-0062 0001-5652
DOI:	10.1159/000154171
Popis:	The polymerase chain reaction and nucleotide sequencing have been used to characterise a single base substitution (CAG → TAG) at nucleotide 16842 in the C1-inhibitor gene in the affected members of a single family with type I C1-inhibitor deficiency. This mutation creates the TAG translation termination codon, thereby truncating the C1-inhibitor C-terminus by 17 amino acids. The effects of the mutation are discussed.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::7d4b47af40ba1568f5cdcf6d2657a87a https://doi.org/10.1159/000154171 Zobrazit plný text záznamu