A Novel Splice Site Mutation in a Brazilian Patient with Hereditary Antithrombin Deficiency Type I

1999 ◽  
Vol 49 (2) ◽  
pp. 119-120 ◽  
Author(s):  
LilianeA.T. Arnaldi ◽  
NewtonC. Polimeno ◽  
ValderR. Arruda ◽  
JoyceM. Annichino-Bizzacchi
Keyword(s):  
Splice Site ◽  
Splice Site Mutation ◽  
Type I ◽  
Site Mutation ◽  
Antithrombin Deficiency ◽  
Brazilian Patient ◽  
Deficiency Type

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

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

Glucose-6-phosphate dehydrogenase (G6PD) deficiency–type Zurich: a splice site mutation as an uncommon mechanism producing enzyme deficiency

Blood ◽  
2004 ◽  
Vol 104 (8) ◽  
pp. 2608-2608 ◽  
Author(s):  
Thomas Efferth ◽  
Esther B. Bachli ◽  
Sonja M. Schwarzl ◽  
Jeroen S. Goede ◽  
Carol West ◽  
...  
Keyword(s):  
Splice Site ◽  
G6pd Deficiency ◽  
Splice Site Mutation ◽  
Enzyme Deficiency ◽  
Site Mutation ◽  
Deficiency Type ◽  
Glucose 6 Phosphate Dehydrogenase

Poor Relationship between Phenotypes of Protein S Deficiency and Mutations in the Protein S Alpha Gene

1999 ◽  
Vol 82 (12) ◽  
pp. 1634-1638 ◽  
Author(s):  
José Hermida ◽  
Pier Mannuccio Mannucci ◽  
Elena Faioni
Keyword(s):  
Splice Site ◽  
Genetic Defect ◽  
Splice Site Mutation ◽  
Protein S ◽  
Nucleotide Sequencing ◽  
Type I ◽  
Protein S Deficiency ◽  
Site Mutation ◽  
Single Strand Conformational Polymorphism ◽  
S Deficiency

SummaryBy single strand conformational polymorphism, nucleotide sequencing and enzyme restriction, we analyzed the protein S α gene in 17 protein S-deficient probands and in their available family members. The relationship between genotype and phenotype was also evaluated. Twelve different sequence variations were identified in 17 probands. Ten were putative causal mutations distributed in 16 probands: 4 were nonsense, 5 missense and one a splice site mutation. In most families in which a mutation was identified, more than one phenotype of PS deficiency was present. The same splice site mutation (intron j G-A, exon 10+5) was associated with type I deficiency in one family and with type I/III in another unrelated family. A phenotypic discrepancy was also observed for the Arg474Pro, Gly597Asp and Arg410stop mutations. Glu26Ala, previously reported in kindreds with type I deficiencies, was found in association with I, II and III phenotypes in four unrelated kindreds. Phenotypic analysis of protein S deficiency is poorly related to the underlying genetic defect.

A novel splice-site mutation c.42-2A>T (IVS1-2A>T) of SERPINC1 in a Korean family with inherited antithrombin deficiency

2011 ◽  
Vol 22 (8) ◽  
pp. 742-745 ◽  
Author(s):  
Moon Ju Jang ◽  
Jeong-Guil Lee ◽  
So Young Chong ◽  
Ji Young Huh ◽  
Mi-Ae Jang ◽  
...  
Keyword(s):  
Splice Site ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Antithrombin Deficiency ◽  
Korean Family
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