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Literature DB >> 22274582

Clinical utility gene card for: haemophilia B.

Peter Vincent Jenkins¹, Catriona Keenan, Steve Keeney, Tony Cumming, James S O'Donnell.

Abstract

Entities: Disease

Mesh：

Year: 2012 PMID： 22274582 PMCID： PMC3330231 DOI： 10.1038/ejhg.2011.268

Source DB: PubMed Journal: Eur J Hum Genet ISSN： 1018-4813 Impact factor: 4.246

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13 in total

1. Factor IX gene sequencing by a simple and sensitive 15-hour procedure for haemophilia B diagnosis: identification of two novel mutations.

Authors: F Vidal; E Farssac; C Altisent; L Puig; D Gallardo
Journal: Br J Haematol Date: 2000-11 Impact factor: 6.998

2. Denaturing HPLC procedure for factor IX gene scanning.

Authors: Giuseppe Castaldo; Paola Nardiello; Fabiana Bellitti; Angiola Rocino; Antonio Coppola; Giovanni di Minno; Francesco Salvatore
Journal: Clin Chem Date: 2003-05 Impact factor: 8.327

3. Hemophilia B Leyden: a sex-linked hereditary disorder that improves after puberty.

Authors: E Briët; R M Bertina; N H van Tilburg; J J Veltkamp
Journal: N Engl J Med Date: 1982-04-01 Impact factor: 91.245

4. Recovery from hemophilia B Leyden: an androgen-responsive element in the factor IX promoter.

Authors: M Crossley; M Ludwig; K M Stowell; P De Vos; K Olek; G G Brownlee
Journal: Science Date: 1992-07-17 Impact factor: 47.728

5. The UK National External Quality Assessment Scheme (UK NEQAS) for molecular genetic testing in haemophilia.

Authors: David J Perry; Anne Goodeve; Marian Hill; Ian Jennings; Steve Kitchen; Isobel Walker
Journal: Thromb Haemost Date: 2006-11 Impact factor: 5.249

6. Identification of deletion carriers in hemophilia B: quantitative real-time polymerase chain reaction or multiple ligation probe amplification.

Authors: Pilar Casaña; Saturnino Haya; Ana R Cid; Silvestre Oltra; Francisco Martínez; Noelia Cabrera; José A Aznar
Journal: Transl Res Date: 2009-01-27 Impact factor: 7.012

Clinical utility gene card for: haemophilia B.

1. Factor IX gene sequencing by a simple and sensitive 15-hour procedure for haemophilia B diagnosis: identification of two novel mutations.

2. Denaturing HPLC procedure for factor IX gene scanning.

3. Hemophilia B Leyden: a sex-linked hereditary disorder that improves after puberty.

4. Recovery from hemophilia B Leyden: an androgen-responsive element in the factor IX promoter.

5. The UK National External Quality Assessment Scheme (UK NEQAS) for molecular genetic testing in haemophilia.

6. Identification of deletion carriers in hemophilia B: quantitative real-time polymerase chain reaction or multiple ligation probe amplification.

7. Direct detection of point mutations by mismatch analysis: application to haemophilia B.

8. The putative factor IX gene promoter in hemophilia B Leyden.

Review 9. Preimplantation genetic diagnosis of haemophilia.

10. Bleeding in carriers of hemophilia.

Review 1. Oral delivery of human biopharmaceuticals, autoantigens and vaccine antigens bioencapsulated in plant cells.