scholarly journals A novel C1 inhibitor gene mutation in a family with hereditary angioedema: Use of genetic analysis to facilitate early diagnosis

2020 ◽  
Vol 69 (1) ◽  
pp. 148-149
Author(s):  
Koji Yokoyama ◽  
Takahiko Horiuchi ◽  
Chinami Hashimura ◽  
Akira Yoshida
Keyword(s):  
Early Diagnosis ◽  
Genetic Analysis ◽  
Gene Mutation ◽  
Hereditary Angioedema ◽  
C1 Inhibitor ◽  
Inhibitor Gene

A single nucleotide deletion at the C1 inhibitor gene as the cause of hereditary angioedema: insights from a Brazilian family

Allergy ◽  
2011 ◽  
Vol 66 (10) ◽  
pp. 1384-1390 ◽  
Author(s):  
M. F. Ferraro ◽  
A. S. Moreno ◽  
E. C. Castelli ◽  
E. A. Donadi ◽  
M. S. Palma ◽  
...  
Keyword(s):  
Hereditary Angioedema ◽  
C1 Inhibitor ◽  
Single Nucleotide ◽  
Single Nucleotide Deletion ◽  
Nucleotide Deletion ◽  
Inhibitor Gene

Hereditary Angioedema: a New Mutation of the C1 Inhibitor Gene in a Brazilian Family

2008 ◽  
Vol 121 (2) ◽  
pp. S101-S101
Author(s):  
M FERRARO ◽  
W SARTI ◽  
A SOUZA ◽  
E DONADI ◽  
E CASTELLI ◽  
...  
Keyword(s):  
Hereditary Angioedema ◽  
C1 Inhibitor ◽  
New Mutation ◽  
Inhibitor Gene

Genetic Analysis As a Practical Tool to Diagnose Hereditary Angioedema with Normal C1 Inhibitor: A Case Report

2015 ◽  
Vol 135 (2) ◽  
pp. AB197
Author(s):  
Luisa Karla P. Arruda ◽  
Luana Delcaro ◽  
Priscila B. Botelho Palhas ◽  
Marina M. Dias ◽  
Valdair F. Muglia ◽  
...  
Keyword(s):  
Case Report ◽  
Genetic Analysis ◽  
Hereditary Angioedema ◽  
C1 Inhibitor ◽  
Practical Tool

Splicing variants in C1 inhibitor gene: Quantitative study in hereditary angioedema patients

2008 ◽  
Vol 45 (16) ◽  
pp. 4133
Author(s):  
Rocio Mena de la Cruz ◽  
Alberto Lopez-Lera ◽  
Sofia Garrido-Herrero ◽  
Gumersindo Fontan ◽  
Margarita Lopez-Trascasa
Keyword(s):  
Quantitative Study ◽  
Hereditary Angioedema ◽  
C1 Inhibitor ◽  
Splicing Variants ◽  
Inhibitor Gene

scholarly journals A Novel RNA Splice Site Mutation in the C1 Inhibitor Gene of a Patient with Type I Hereditary Angioedema

2004 ◽  
Vol 43 (3) ◽  
pp. 253-255 ◽  
Author(s):  
Yoshiki SEKIJIMA ◽  
Takao HASHIMOTO ◽  
Yasuhiro KAWACHI ◽  
Hiroshi KOSHIHARA ◽  
Fujio OTSUKA ◽  
...  
Keyword(s):  
Splice Site ◽  
Hereditary Angioedema ◽  
Splice Site Mutation ◽  
Type I ◽  
C1 Inhibitor ◽  
Site Mutation ◽  
Inhibitor Gene

Mutation screening of C1 inhibitor gene in 108 unrelated families with hereditary angioedema: Functional and structural correlates

2008 ◽  
Vol 45 (13) ◽  
pp. 3536-3544 ◽  
Author(s):  
Emanuela Pappalardo ◽  
Sonia Caccia ◽  
Chiara Suffritti ◽  
Attila Tordai ◽  
Lorenza Chiara Zingale ◽  
...  
Keyword(s):  
Hereditary Angioedema ◽  
Mutation Screening ◽  
C1 Inhibitor ◽  
Inhibitor Gene
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