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Literature DB >> 4045960

Gene deletion in an Italian haemophilia B subject.

F Bernardi, L del Senno, R Barbieri, D Buzzoni, R Gambari, G Marchetti, F Conconi, F Panicucci, M Positano, S Pitruzzello.

Abstract

DNA from 20 Italian haemophilia B patients was analysed by the Southern blotting technique and hybridisation to a factor IX cDNA probe. A large deletion of factor IX gene was detected in one patient with antibodies to the infused factor; the EcoRI pattern of the other 19 subjects examined was normal.

Entities: Disease Gene Species

Mesh：

Substances：
Factor IX

Year: 1985 PMID： 4045960 PMCID： PMC1049455 DOI： 10.1136/jmg.22.4.305

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

10 in total

1. Unexpected relationships between four large deletions in the human beta-globin gene cluster.

Authors: E F Vanin; P S Henthorn; D Kioussis; F Grosveld; O Smithies
Journal: Cell Date: 1983-12 Impact factor: 41.582

2. Isolation of a human anti-haemophilic factor IX cDNA clone using a unique 52-base synthetic oligonucleotide probe deduced from the amino acid sequence of bovine factor IX.

Authors: M Jaye; H de la Salle; F Schamber; A Balland; V Kohli; A Findeli; P Tolstoshev; J P Lecocq
Journal: Nucleic Acids Res Date: 1983-04-25 Impact factor: 16.971

Review 3. Blood coagulation.

Authors: C M Jackson; Y Nemerson
Journal: Annu Rev Biochem Date: 1980 Impact factor: 23.643

4. Molecular characteristics of a non-deletion alpha-thalassaemia of the Po River Delta.

Authors: L del Senno; F Bernardi; D Buzzoni; G Marchetti; C Perrotta; F Conconi
Journal: Eur J Biochem Date: 1981-05

5. Isolation and characterization of a cDNA coding for human factor IX.

Authors: K Kurachi; E W Davie
Journal: Proc Natl Acad Sci U S A Date: 1982-11 Impact factor: 11.205

6. Characterisation and use of an intragenic polymorphic marker for detection of carriers of haemophilia B (factor IX deficiency).

Authors: F Giannelli; D S Anson; K H Choo; D J Rees; P R Winship; N Ferrari; C R Rizza; G G Brownlee
Journal: Lancet Date: 1984-02-04 Impact factor: 79.321

7. Molecular cloning of the gene for human anti-haemophilic factor IX.

Authors: K H Choo; K G Gould; D J Rees; G G Brownlee
Journal: Nature Date: 1982-09-09 Impact factor: 49.962

8. Gene deletions in patients with haemophilia B and anti-factor IX antibodies.

Authors: F Giannelli; K H Choo; D J Rees; Y Boyd; C R Rizza; G G Brownlee
Journal: Nature Date: 1983 May 12-18 Impact factor: 49.962

9. The chromosomal arrangement of human alpha-like globin genes: sequence homology and alpha-globin gene deletions.

Authors: J Lauer; C K Shen; T Maniatis
Journal: Cell Date: 1980-05 Impact factor: 41.582

10. The gene structure of human anti-haemophilic factor IX.

Authors: D S Anson; K H Choo; D J Rees; F Giannelli; K Gould; J A Huddleston; G G Brownlee
Journal: EMBO J Date: 1984-05 Impact factor: 11.598

10 in total

Review 1. Alport syndrome, basement membranes and collagen.

Authors: C E Kashtan; M M Kleppel; R J Butkowski; A F Michael; A J Fish
Journal: Pediatr Nephrol Date: 1990-09 Impact factor: 3.714

2. The Italian haemophilia B mutation database: a tool for genetic counselling, carrier detection and prenatal diagnosis.

Authors: Giuseppe Tagariello; Donata Belvini; Roberta Salviato; Rosanna Di Gaetano; Daniela Zanotto; Paolo Radossi; Renzo Risato; Roberto Sartori; Cristina Tassinari
Journal: Blood Transfus Date: 2007-07 Impact factor: 3.443

3. Molecular studies of haemophilia B in Sweden. Identification of patients with total deletion of the factor IX gene and without inhibitory antibodies.

Authors: C Wadelius; M Blombäck; U Pettersson
Journal: Hum Genet Date: 1988-12 Impact factor: 4.132

Gene deletion in an Italian haemophilia B subject.

1. Unexpected relationships between four large deletions in the human beta-globin gene cluster.

2. Isolation of a human anti-haemophilic factor IX cDNA clone using a unique 52-base synthetic oligonucleotide probe deduced from the amino acid sequence of bovine factor IX.

Review 3. Blood coagulation.

4. Molecular characteristics of a non-deletion alpha-thalassaemia of the Po River Delta.

5. Isolation and characterization of a cDNA coding for human factor IX.

6. Characterisation and use of an intragenic polymorphic marker for detection of carriers of haemophilia B (factor IX deficiency).

7. Molecular cloning of the gene for human anti-haemophilic factor IX.

8. Gene deletions in patients with haemophilia B and anti-factor IX antibodies.

9. The chromosomal arrangement of human alpha-like globin genes: sequence homology and alpha-globin gene deletions.

10. The gene structure of human anti-haemophilic factor IX.

Review 1. Alport syndrome, basement membranes and collagen.

2. The Italian haemophilia B mutation database: a tool for genetic counselling, carrier detection and prenatal diagnosis.

3. Molecular studies of haemophilia B in Sweden. Identification of patients with total deletion of the factor IX gene and without inhibitory antibodies.

4. Application of three intragenic DNA polymorphisms for carrier detection in haemophilia B.

5. Heterogeneity of the factor IX locus in nine hemophilia B inhibitor patients.

6. Gene deletions correlate with the development of alloantibodies in von Willebrand disease.

Review 7. Diagnosis of genetic disease using recombinant DNA.

8. A complete deletion of the factor IX gene and new TaqI variant in a hemophilia B kindred.

9. Hemophilia B (Christmas disease) variants and carrier detection analyzed by DNA probes.

10. Nullisomic deletion of the mcf.2 transforming gene in two haemophilia B patients.