Literature DB >> 2377450

Haemophilia B: database of point mutations and short additions and deletions.

F Giannelli1, P M Green, K A High, J N Lozier, D P Lillicrap, M Ludwig, K Olek, P H Reitsma, M Goossens, A Yoshioka.   

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Year:  1990        PMID： 2377450      PMCID： PMC331159          DOI： 10.1093/nar/18.14.4053

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


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  43 in total

1.  Hemophilia B (factor IXSeattle 2) due to a single nucleotide deletion in the gene for factor IX.

Authors:  B G Schach; S Yoshitake; E W Davie
Journal:  J Clin Invest       Date:  1987-10       Impact factor: 14.808

2.  Factor IXAlabama: a point mutation in a clotting protein results in hemophilia B.

Authors:  L M Davis; R A McGraw; J L Ware; H R Roberts; D W Stafford
Journal:  Blood       Date:  1987-01       Impact factor: 22.113

3.  Genetic defect responsible for the dysfunctional protein: factor IXLong Beach.

Authors:  J Ware; L Davis; D Frazier; S P Bajaj; D W Stafford
Journal:  Blood       Date:  1988-08       Impact factor: 22.113

4.  Identification of a CpG mutation in the coagulation factor-IX gene by analysis of amplified DNA sequences.

Authors:  V Siguret; S Amselem; M Vidaud; Z Assouline; D Kerbiriou-Nabias; G Piétu; M Goossens; M J Larrieu; B Bahnak; D Meyer
Journal:  Br J Haematol       Date:  1988-12       Impact factor: 6.998

5.  Three point mutations in the factor IX genes of five hemophilia B patients. Identification strategy using localization by altered epitopes in their hemophilic proteins.

Authors:  S H Chen; A R Thompson; M Zhang; C R Scott
Journal:  J Clin Invest       Date:  1989-07       Impact factor: 14.808

6.  Molecular defect in factor IXHilo, a hemophilia Bm variant: Arg----Gln at the carboxyterminal cleavage site of the activation peptide.

Authors:  M N Huang; C K Kasper; H R Roberts; D W Stafford; K A High
Journal:  Blood       Date:  1989-02-15       Impact factor: 22.113

7.  Hemophilia B Durham: a mutation in the first EGF-like domain of factor IX that is characterized by polymerase chain reaction.

Authors:  P H Denton; D M Fowlkes; S T Lord; H M Reisner
Journal:  Blood       Date:  1988-10       Impact factor: 22.113

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

Authors:  P H Reitsma; R M Bertina; J K Ploos van Amstel; A Riemens; E Briët
Journal:  Blood       Date:  1988-09       Impact factor: 22.113

9.  Identification of a single nucleotide C-to-T transition and five different deletions in patients with severe hemophilia B.

Authors:  M Ludwig; R Schwaab; A Eigel; J Horst; H Egli; H H Brackmann; K Olek
Journal:  Am J Hum Genet       Date:  1989-07       Impact factor: 11.025

10.  A factor IX mutation, verified by direct genomic sequencing, causes haemophilia B by a novel mechanism.

Authors:  T C Tsang; D R Bentley; R S Mibashan; F Giannelli
Journal:  EMBO J       Date:  1988-10       Impact factor: 11.598
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  25 in total

1.  Intra- and extragenic marker haplotypes of CFTR mutations in cystic fibrosis families.

Authors:  T Dörk; T Neumann; U Wulbrand; B Wulf; N Kälin; G Maass; M Krawczak; H Guillermit; C Ferec; G Horn
Journal:  Hum Genet       Date:  1992-02       Impact factor: 4.132

2.  Haemophilia B: database of point mutations and short additions and deletions--second edition.

Authors:  F Giannelli; P M Green; K A High; S Sommer; D P Lillicrap; M Ludwig; K Olek; P H Reitsma; M Goossens; A Yoshioka
Journal:  Nucleic Acids Res       Date:  1991-04-25       Impact factor: 16.971

3.  A new variant of Glanzmann's thrombasthenia (Strasbourg I). Platelets with functionally defective glycoprotein IIb-IIIa complexes and a glycoprotein IIIa 214Arg----214Trp mutation.

Authors:  F Lanza; A Stierlé; D Fournier; M Morales; G André; A T Nurden; J P Cazenave
Journal:  J Clin Invest       Date:  1992-06       Impact factor: 14.808

4.  Missense mutations and the magnitude of functional deficit: the example of factor IX.

Authors:  S S Sommer; E J Bowie; R P Ketterling; C D Bottema
Journal:  Hum Genet       Date:  1992-05       Impact factor: 4.132

Review 5.  Progress in the DNA diagnosis of hemophilias.

Authors:  M Goossens; N Ghanem
Journal:  Ann Hematol       Date:  1991-04       Impact factor: 3.673

6.  Prenatal diagnosis of haemophilia B by the use of polymerase chain reaction and direct sequencing.

Authors:  M Ludwig; H H Brackmann; K Olek
Journal:  Klin Wochenschr       Date:  1991-03-18

7.  Mechanisms of insertional mutagenesis in human genes causing genetic disease.

Authors:  D N Cooper; M Krawczak
Journal:  Hum Genet       Date:  1991-08       Impact factor: 4.132

8.  Molecular characterization of mild-to-moderate hemophilia A: detection of the mutation in 25 of 29 patients by denaturing gradient gel electrophoresis.

Authors:  M Higuchi; S E Antonarakis; L Kasch; J Oldenburg; E Economou-Petersen; K Olek; M Arai; H Inaba; H H Kazazian
Journal:  Proc Natl Acad Sci U S A       Date:  1991-10-01       Impact factor: 11.205

9.  Isoleucine397 is changed to threonine in two females with hemophilia B.

Authors:  G Sarkar; J D Cassady; R E Pyeritz; G S Gilchrist; S S Sommer
Journal:  Nucleic Acids Res       Date:  1991-03-11       Impact factor: 16.971

10.  HpaII methyltransferase is mutagenic in Escherichia coli.

Authors:  B Bandaru; M Wyszynski; A S Bhagwat
Journal:  J Bacteriol       Date:  1995-05       Impact factor: 3.490
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