Literature DB >> 2726505

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

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

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Year:  1989        PMID： 2726505      PMCID： PMC317825          DOI： 10.1093/nar/17.9.3614

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


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  2 in total

1.  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

2.  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
  2 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.  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

3.  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

4.  Diagnosis of haemophilia B using the polymerase chain reaction.

Authors:  J Reiss; U Neufeldt; K Wieland; B Zoll
Journal:  Blut       Date:  1990-01

5.  Mutations causing hemophilia B: direct estimate of the underlying rates of spontaneous germ-line transitions, transversions, and deletions in a human gene.

Authors:  D D Koeberl; C D Bottema; R P Ketterling; P J Bridge; D P Lillicrap; S S Sommer
Journal:  Am J Hum Genet       Date:  1990-08       Impact factor: 11.025

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

Authors:  S R Poort; E Briët; R M Bertina; P H Reitsma
Journal:  Nucleic Acids Res       Date:  1989-07-25       Impact factor: 16.971

7.  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

8.  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

9.  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 in total

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