2006
DOI: 10.1111/j.1538-7836.2006.02203.x
|View full text |Cite
|
Sign up to set email alerts
|

A novel missense mutation responsible for factor VII deficiency in research Beagle colonies

Abstract: To cite this article: Callan MB, Aljamali MN, Margaritis P, Griot-Wenk ME, Pollak ES, Werner P, Giger U, High KA. A novel missense mutation responsible for factor VII deficiency in research Beagle colonies. J Thromb Haemost 2006; 4: 2616-22.Summary. Background: Canine factor VII (cFVII) deficiency, an autosomal recessive trait originally identified in research Beagles, is associated with a mild to moderate bleeding tendency. Objective: Our aim was to identify and characterize the mutation causing cFVII deficie… Show more

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
3
1

Citation Types

3
85
0
2

Year Published

2007
2007
2024
2024

Publication Types

Select...
3
2
1

Relationship

0
6

Authors

Journals

citations
Cited by 50 publications
(90 citation statements)
references
References 21 publications
3
85
0
2
Order By: Relevance
“…The canine FVII complementary DNA has now been sequenced (GenBank accession number DQ223901), and the predicted canine FVII protein sequence results in a mature protein of 406 amino acids, sharing 75% identity with the human FVII protein. 14 The mutation responsible for FVII deficiency in Beagles recently was identified as a G to A missense mutation in exon 5, encoding the second epidermal growth factor-like domain, resulting in substitution of glycine 96 by glutamic acid. 14 In vitro expression of the canine G96E mutant protein documented a marked reduction in FVII activity and secretion in comparison with the canine FVII wild-type protein.…”
Section: Discussionmentioning
confidence: 99%
See 4 more Smart Citations
“…The canine FVII complementary DNA has now been sequenced (GenBank accession number DQ223901), and the predicted canine FVII protein sequence results in a mature protein of 406 amino acids, sharing 75% identity with the human FVII protein. 14 The mutation responsible for FVII deficiency in Beagles recently was identified as a G to A missense mutation in exon 5, encoding the second epidermal growth factor-like domain, resulting in substitution of glycine 96 by glutamic acid. 14 In vitro expression of the canine G96E mutant protein documented a marked reduction in FVII activity and secretion in comparison with the canine FVII wild-type protein.…”
Section: Discussionmentioning
confidence: 99%
“…14 A comparison of the DNA sequences of the entire coding region and exon-intron boundaries from the propositus to the wild-type canine FVII gene identified the same G to A missense mutation in exon 5, resulting in substitution of glycine 96 (GGA) by glutamic acid (GAA), as previously identified in the Beagle. 14 The propositus was homozygous for the G96E mutation, and there were no other differences noted in comparison of the predicted amino acid alignments. Sequencing of exon 5 in the 17 other Alaskan Klee Kai dogs identified 5 dogs homozygous for the G96E mutation, 4 dogs heterozygous for the missense mutation (including the dam and the sire of the propositus), and 8 dogs with the wild-type sequence (Fig 2).…”
Section: Fvii Dna Analysesmentioning
confidence: 91%
See 3 more Smart Citations