Search results for "Specific mutation"

Severe Tongue Swellings In Hereditary Angioedema With A Specific Mutation In The Plasminogen Gene

2018

Direct Identification of Each Specific Mutation in Codon 12 and 13 of ci-ki-ras2 by SSCP Analysis

1998

We compared the SSCP behaviour of the DNA fragments containing c-ki-ras 2 wild type 12 and 13 codons or each of the 12 possible point mutated sequences in these two codons. We found that a single electrophoresis condition was sufficient to distinguish each specific mutation from the other 11 and from the wild type sequence. This observation makes it possible to identify each specific mutation directly by SSCP without any need for reamplification and sequencing.

Hereditary Angioedema with Normal C1-INH with Versus without a Specific Mutation in the F12 Gene

2015

Tamoxifen, a Trigger Factor of Hereditary Angioedema with Normal C1-INH with a Specific Mutation in the F12 Gene (HAE-FXII)

2016