Literature DB >> 2762170

A Dutch pedigree with mild hemophilia B with a missense mutation in the first EGF domain (factor IXOud en Nieuw Gastel).

S R Poort1, E Briët, R M Bertina, P H Reitsma.   

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Year:  1989        PMID： 2762170      PMCID： PMC318230          DOI： 10.1093/nar/17.14.5869

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


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  5 in total

1.  Nucleotide sequence of the gene for human factor IX (antihemophilic factor B).

Authors:  S Yoshitake; B G Schach; D C Foster; E W Davie; K Kurachi
Journal:  Biochemistry       Date:  1985-07-02       Impact factor: 3.162

2.  A Dutch family with moderately severe hemophilia B (factor IXHeerde) has a missense mutation identical to that of factor IX London 2.

Authors:  S R Poort; E Briët; R M Bertina; P H Reitsma
Journal:  Nucleic Acids Res       Date:  1989-05-11       Impact factor: 16.971

3.  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

4.  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

5.  Restriction sites containing CpG show a higher frequency of polymorphism in human DNA.

Authors:  D Barker; M Schafer; R White
Journal:  Cell       Date:  1984-01       Impact factor: 41.582
  5 in total
  9 in total

1.  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

2.  Factor IXBasel: a Swiss family with severe haemophilia B having a point mutation in EGF type B domain.

Authors:  M Alkan; M Rodriguez Ponte; N J Malik; S Hofmann; N Bösch-Al Jadooa; H Müller; E M Bühler
Journal:  Nucleic Acids Res       Date:  1991-01-25       Impact factor: 16.971

3.  Haemophilia B: database of point mutations and short additions and deletions--third edition, 1992.

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:  1992-05-11       Impact factor: 16.971

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

Authors:  F Giannelli; P M Green; K A High; J N Lozier; D P Lillicrap; M Ludwig; K Olek; P H Reitsma; M Goossens; A Yoshioka
Journal:  Nucleic Acids Res       Date:  1990-07-25       Impact factor: 16.971

5.  Haemophilia B: database of point mutations and short additions and deletions--fourth edition, 1993.

Authors:  F Giannelli; P M Green; K A High; S Sommer; M C Poon; M Ludwig; R Schwaab; P H Reitsma; M Goossens; A Yoshioka
Journal:  Nucleic Acids Res       Date:  1993-07-01       Impact factor: 16.971

6.  Haemophilia B: database of point mutations and short additions and deletions, fifth edition, 1994.

Authors:  F Giannelli; P M Green; S S Sommer; D P Lillicrap; M Ludwig; R Schwaab; P H Reitsma; M Goossens; A Yoshioka; G G Brownlee
Journal:  Nucleic Acids Res       Date:  1994-09       Impact factor: 16.971

Review 7.  The contribution of DNA analysis to carrier detection and prenatal diagnosis of hemophilia A and B.

Authors:  A H Bröcker-Vriends; E Bakker; H H Kanhai; G J van Ommen; P H Reitsma; J J van de Kamp; E Briët
Journal:  Ann Hematol       Date:  1992-01       Impact factor: 3.673

8.  Haemophilia B (sixth edition): a database of point mutations and short additions and deletions.

Authors:  F Giannelli; P M Green; S S Sommer; M C Poon; M Ludwig; R Schwaab; P H Reitsma; M Goossens; A Yoshioka; G G Brownlee
Journal:  Nucleic Acids Res       Date:  1996-01-01       Impact factor: 16.971

9.  Molecular Analysis of Factor VIII and Factor IX Genes in Hemophilia Patients: Identification of Novel Mutations and Molecular Dynamics Studies.

Authors:  Faisal A Al-Allaf; Mohiuddin M Taher; Zainularifeen Abduljaleel; Abdellatif Bouazzaoui; Mohammed Athar; Neda M Bogari; Halah A Abalkhail; Tarek Ma Owaidah
Journal:  J Clin Med Res       Date:  2017-02-21
  9 in total

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