Characterisation of Nucleotide Sequence Variants and Disease-Specific Mutations Involving the 3’ End of the C1-inhibitor Gene in Hereditary Angio-Oedema

1995 ◽  
Vol 45 (2) ◽  
pp. 98-102 ◽  
Author(s):  
Z. Siddique ◽  
A.R. McPhaden ◽  
K. Whale†
Keyword(s):  
Nucleotide Sequence ◽  
Sequence Variants ◽  
C1 Inhibitor ◽  
Disease Specific ◽  
Inhibitor Gene

C1-inhibitor gene nucleotide insertion causes type II hereditary angio-oedema

1993 ◽  
Vol 92 (2) ◽  
Author(s):  
Z. Siddique ◽  
A.R. McPhaden ◽  
K. Whaley
Keyword(s):  
Type Ii ◽  
C1 Inhibitor ◽  
Nucleotide Insertion ◽  
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

scholarly journals C1 Inhibitor Gene Sequence Facilitates Frameshift Mutations

1998 ◽  
Vol 4 (12) ◽  
pp. 795-806 ◽  
Author(s):  
John J. Bissler ◽  
Qin-Shao Meng ◽  
Theresa Emery
Keyword(s):  
Gene Sequence ◽  
C1 Inhibitor ◽  
Frameshift Mutations ◽  
Inhibitor Gene

An RNA splice site mutation in the C1-inhibitor gene causes type I hereditary angio-oedema

1991 ◽  
Vol 88 (2) ◽  
Author(s):  
Z. Siddique ◽  
A.R. McPhaden ◽  
D.F. Lappin ◽  
K. Whaley
Keyword(s):  
Splice Site ◽  
Splice Site Mutation ◽  
Type I ◽  
C1 Inhibitor ◽  
Site Mutation ◽  
Inhibitor Gene
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