Literature DB >> 2014182

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

M Alkan1, M Rodriguez Ponte, N J Malik, S Hofmann, N Bösch-Al Jadooa, H Müller, E M Bühler.   

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Year:  1991        PMID： 2014182      PMCID： PMC333618          DOI： 10.1093/nar/19.2.409

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


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  7 in total

1.  Factor IX New London: substitution of proline for glutamine at position 50 causes severe hemophilia B.

Authors:  J N Lozier; D M Monroe; S Stanfield-Oakley; S W Lin; K J Smith; H R Roberts; K A High
Journal:  Blood       Date:  1990-03-01       Impact factor: 22.113

2.  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

3.  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

4.  Generation of single-stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus.

Authors:  U B Gyllensten; H A Erlich
Journal:  Proc Natl Acad Sci U S A       Date:  1988-10       Impact factor: 11.205

5.  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

6.  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

7.  Molecular pathology of haemophilia B.

Authors:  P M Green; D R Bentley; R S Mibashan; I M Nilsson; F Giannelli
Journal:  EMBO J       Date:  1989-04       Impact factor: 11.598
  7 in total
  4 in total

1.  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

2.  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

3.  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

4.  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
  4 in total

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