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Literature DB >> 7984443

Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition.

E G Tuddenham¹, R Schwaab, J Seehafer, D S Millar, J Gitschier, M Higuchi, S Bidichandani, J M Connor, L W Hoyer, A Yoshioka.

Abstract

A large number of different mutations in the factor VIII (F8) gene have been identified as a cause of haemophilia A. This compilation lists known single base-pair substitutions, deletions and insertions in the F8 gene and reviews the status of the inversional events which account for a substantial proportion of mutations causing severe haemophilia A.

Entities: Disease

Mesh：

Substances：
Factor VIII

Year: 1994 PMID： 7984443 PMCID： PMC308545 DOI： 10.1093/nar/22.22.4851

Source DB: PubMed Journal: Nucleic Acids Res ISSN： 0305-1048 Impact factor: 16.971

90 in total

1. Moderately severe hemophilia A resulting from Glu----Gly substitution in exon 7 of the factor VIII gene.

Authors: H Youssoufian; C Wong; S Aronis; H Platokoukis; H H Kazazian; S E Antonarakis
Journal: Am J Hum Genet Date: 1988-06 Impact factor: 11.025

2. Combined factor VIII/factor XI deficiency may cause intra-familial clinical variability in haemophilia A among Ashkenazi Jews.

Authors: L P Berg; D Varon; U Martinowitz; K Wieland; V V Kakkar; D N Cooper
Journal: Blood Coagul Fibrinolysis Date: 1994-02 Impact factor: 1.276

Review 3. Mutation detection by denaturing gradient gel electrophoresis (DGGE).

Authors: R Fodde; M Losekoot
Journal: Hum Mutat Date: 1994 Impact factor: 4.878

4. Intron 22 inversions and haemophilia.

Authors: E F Tizzano; C Altisent; J Tusell; M Domènech; M Baiget
Journal: Lancet Date: 1994-03-26 Impact factor: 79.321

5. Screening for inversions in the factor VIII (F8) gene causing severe haemophilia A.

Authors: D S Millar; V V Kakkar; D N Cooper
Journal: Blood Coagul Fibrinolysis Date: 1994-04 Impact factor: 1.276

6. A novel splice donor mutation affecting position +3 in intron 6 of the factor VIII gene.

Authors: S I Bidichandani; C R Shiach; W G Lanyon; J M Connor
Journal: Hum Mol Genet Date: 1994-04 Impact factor: 6.150

7. Analysis of the essential sequences of the factor VIII gene in twelve haemophilia A patients by single-stranded conformation polymorphism.

Authors: D David; I Moreira; M R Lalloz; H A Rosa; R Schwaab; S Morais; M J Diniz; G de Deus; M Campos; J Lavinha
Journal: Blood Coagul Fibrinolysis Date: 1994-04 Impact factor: 1.276

8. Abnormal factor VIII Hiroshima: defect in crucial proteolytic cleavage by thrombin at Arg1689 detected by a novel ELISA.

Authors: S Kamisue; M Shima; T Nishimura; I Tanaka; H Nakai; S Morichika; N Takata; A Kuramoto; A Yoshioka
Journal: Br J Haematol Date: 1994-01 Impact factor: 6.998

9. Characterization of a partial deletion of the factor VIII gene in a haemophiliac with inhibitor.

Authors: B Bardoni; M Sampietro; M Romano; M Crapanzano; P M Mannucci; G Camerino
Journal: Hum Genet Date: 1988-05 Impact factor: 4.132

10. A HindIII RFLP and a gene lesion in the coagulation factor VIII gene.

Authors: F Bernardi; C Legnani; S Volinia; P Patracchini; G Rodorigo; V DeRosa; G Marchetti
Journal: Hum Genet Date: 1988-04 Impact factor: 4.132

13 in total

1. The EMBL Nucleotide Sequence Database.

Authors: G Stoesser; P Sterk; M A Tuli; P J Stoehr; G N Cameron
Journal: Nucleic Acids Res Date: 1997-01-01 Impact factor: 16.971

2. The Factor VIII Mutation Database on the World Wide Web: the haemophilia A mutation, search, test and resource site. HAMSTeRS update (version 3.0).

Authors: G Kemball-Cook; E G Tuddenham
Journal: Nucleic Acids Res Date: 1997-01-01 Impact factor: 16.971

3. The European Bioinformatics Institute (EBI) databases.

Authors: P Rodriguez-Tomé; P J Stoehr; G N Cameron; T P Flores
Journal: Nucleic Acids Res Date: 1996-01-01 Impact factor: 16.971

4. Role of the liver-enriched transcription factor hepatocyte nuclear factor 1 in transcriptional regulation of the factor V111 gene.

Authors: L K McGlynn; C R Mueller; M Begbie; C R Notley; D Lillicrap
Journal: Mol Cell Biol Date: 1996-05 Impact factor: 4.272

5. Impact of Prothrombotic Risk Factors in a Cohort of Egyptian Hemophilia A Patients.

Authors: Mona Salah El-Din Hamdy; Aml Soliman Nasr; Manal Mohamed Makhlouf; Zainab Ali El-Saadany; Magy Samir; Dalia Saber Morgan
Journal: Mol Diagn Ther Date: 2016-04 Impact factor: 4.074

6. Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping.

Authors: Pia Pinholt Madsen; Maria Kibaek; Xavier Roca; Ravi Sachidanandam; Adrian R Krainer; Ernst Christensen; Robert D Steiner; K Michael Gibson; Thomas J Corydon; Inga Knudsen; Ronald J A Wanders; Jos P N Ruiter; Niels Gregersen; Brage Storstein Andresen
Journal: Hum Genet Date: 2005-11-30 Impact factor: 4.132

10. Passive transfer of polyethylene glycol to liposomal-recombinant human FVIII enhances its efficacy in a murine model for hemophilia A.

Authors: Karthik Ramani; Vivek Purohit; Razvan Miclea; Puneet Gaitonde; Robert M Straubinger; Sathy V Balu-Iyer
Journal: J Pharm Sci Date: 2008-09 Impact factor: 3.534