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Hereditary Angioedema: a New Mutation of the C1 Inhibitor Gene in a Brazilian Family
Journal of Allergy and Clinical Immunology
◽
10.1016/j.jaci.2007.12.402
◽
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
Download Full-text
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Cited By
References
A single nucleotide deletion at the C1 inhibitor gene as the cause of hereditary angioedema: insights from a Brazilian family
Allergy
◽
10.1111/j.1398-9995.2011.02658.x
◽
2011
◽
Vol 66
(10)
◽
pp. 1384-1390
◽
Cited By ~ 9
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
Download Full-text
A novel C1 inhibitor gene mutation in a family with hereditary angioedema: Use of genetic analysis to facilitate early diagnosis
Allergology International
◽
10.1016/j.alit.2019.07.005
◽
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
Download Full-text
Newly Found C1 Inhibitor Gene Mutation in Hereditary Angioedema Patients
Chinese Medical Sciences Journal
◽
10.1016/s1001-9294(10)60012-0
◽
2009
◽
Vol 24
(4)
◽
pp. 252
Author(s):
Rui Tang
◽
Hong-yu Zhang
Keyword(s):
Gene Mutation
◽
Hereditary Angioedema
◽
C1 Inhibitor
◽
Inhibitor Gene
Download Full-text
Splicing variants in C1 inhibitor gene: Quantitative study in hereditary angioedema patients
Molecular Immunology
◽
10.1016/j.molimm.2008.08.113
◽
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
Download Full-text
A Novel RNA Splice Site Mutation in the C1 Inhibitor Gene of a Patient with Type I Hereditary Angioedema
Internal Medicine
◽
10.2169/internalmedicine.43.253
◽
2004
◽
Vol 43
(3)
◽
pp. 253-255
◽
Cited By ~ 5
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
Download Full-text
Mutation screening of C1 inhibitor gene in 108 unrelated families with hereditary angioedema: Functional and structural correlates
Molecular Immunology
◽
10.1016/j.molimm.2008.05.007
◽
2008
◽
Vol 45
(13)
◽
pp. 3536-3544
◽
Cited By ~ 79
Author(s):
Emanuela Pappalardo
◽
Sonia Caccia
◽
Chiara Suffritti
◽
Attila Tordai
◽
Lorenza Chiara Zingale
◽
...
Keyword(s):
Hereditary Angioedema
◽
Mutation Screening
◽
C1 Inhibitor
◽
Inhibitor Gene
Download Full-text
Identification of a novel mutation of C1 inhibitor gene in a Chinese family with hereditary angioedema*1
Journal of Allergy and Clinical Immunology
◽
10.1016/j.jaci.2004.01.182
◽
2004
◽
Vol 113
(2)
◽
pp. S205
Author(s):
Y ZHI
Keyword(s):
Hereditary Angioedema
◽
Novel Mutation
◽
Chinese Family
◽
C1 Inhibitor
◽
Inhibitor Gene
Download Full-text
De novo homozygous mutation of the C1 inhibitor gene in a patient with hereditary angioedema
Journal of Allergy and Clinical Immunology
◽
10.1016/j.jaci.2013.04.006
◽
2013
◽
Vol 132
(3)
◽
pp. 748-750.e3
◽
Cited By ~ 18
Author(s):
Valeria Bafunno
◽
Chiara Divella
◽
Francesco Sessa
◽
Giovanni Luca Tiscia
◽
Giuseppe Castellano
◽
...
Keyword(s):
Hereditary Angioedema
◽
De Novo
◽
Homozygous Mutation
◽
C1 Inhibitor
◽
Inhibitor Gene
Download Full-text
A point mutation in exon 7 of the C1-inhibitor gene causing type I hereditary angioedema
Human Genetics
◽
10.1007/s004390050238
◽
1996
◽
Vol 98
(4)
◽
pp. 452-453
◽
Cited By ~ 4
Author(s):
H. Ono
◽
Hiroshi Kawaguchi
◽
Norihisa Ishii
◽
Hiroshi Nakajima
Keyword(s):
Point Mutation
◽
Hereditary Angioedema
◽
Type I
◽
C1 Inhibitor
◽
Inhibitor Gene
Download Full-text
Five novel mutations in the C1 inhibitor gene (C1NH) leading to a premature stop codon in patients with type I hereditary angioedema
Human Mutation
◽
10.1002/humu.9029
◽
2002
◽
Vol 19
(4)
◽
pp. 461-461
◽
Cited By ~ 13
Author(s):
Tomáš Freiberger
◽
Lenka Kolárová
◽
Pavel Mejstrík
◽
Martina Vyskocilová
◽
Pavel Kuklínek
◽
...
Keyword(s):
Hereditary Angioedema
◽
Stop Codon
◽
Premature Stop Codon
◽
Type I
◽
C1 Inhibitor
◽
Novel Mutations
◽
Inhibitor Gene
Download Full-text
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