Literature DB >> 1598234

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

F Giannelli1, P M Green, K A High, S Sommer, D P Lillicrap, M Ludwig, K Olek, P H Reitsma, M Goossens, A Yoshioka.   

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Year:  1992        PMID： 1598234      PMCID： PMC333981          DOI： 10.1093/nar/20.suppl.2027

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


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  72 in total

1.  A less severe form of Haemophilia B Leyden.

Authors:  M Crossley; P R Winship; D E Austen; C R Rizza; G G Brownlee
Journal:  Nucleic Acids Res       Date:  1990-08-11       Impact factor: 16.971

2.  Factor IX Chongqing: a new mutation in the calcium-binding domain of factor IX resulting in severe hemophilia B.

Authors:  N S Wang; M Zhang; A R Thompson; S H Chen
Journal:  Thromb Haemost       Date:  1990-02-19       Impact factor: 5.249

3.  Defective propeptide processing and abnormal activation underlie the molecular pathology of factor IX Troed-y-Rhiw.

Authors:  M B Liddell; D P Lillicrap; I R Peake; A L Bloom
Journal:  Br J Haematol       Date:  1989-06       Impact factor: 6.998

4.  Functional consequences of an arginine180 to glutamine mutation in factor IX Hilo.

Authors:  D M Monroe; D M McCord; M N Huang; K A High; R L Lundblad; C K Kasper; H R Roberts
Journal:  Blood       Date:  1989-05-01       Impact factor: 22.113

5.  Blood clotting factor IX BM Nagoya. Substitution of arginine 180 by tryptophan and its activation by alpha-chymotrypsin and rat mast cell chymase.

Authors:  K Suehiro; S Kawabata; T Miyata; H Takeya; J Takamatsu; K Ogata; T Kamiya; H Saito; Y Niho; S Iwanaga
Journal:  J Biol Chem       Date:  1989-12-15       Impact factor: 5.157

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.  Structural and functional basis of the developmental regulation of human coagulation factor IX gene: factor IX Leyden.

Authors:  S Hirosawa; J B Fahner; J P Salier; C T Wu; E W Lovrien; K Kurachi
Journal:  Proc Natl Acad Sci U S A       Date:  1990-06       Impact factor: 11.205

8.  Factor IX Cardiff: a variant factor IX protein that shows abnormal activation is caused by an arginine to cysteine substitution at position 145.

Authors:  M B Liddell; I R Peake; S A Taylor; D P Lillicrap; J C Giddings; A L Bloom
Journal:  Br J Haematol       Date:  1989-08       Impact factor: 6.998

9.  A moderate form of hemophilia B is caused by a novel mutation in the protease domain of factor IXVancouver.

Authors:  V A Geddes; B F Le Bonniec; G V Louie; G D Brayer; A R Thompson; R T MacGillivray
Journal:  J Biol Chem       Date:  1989-03-15       Impact factor: 5.157

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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  10 in total

1.  A new strategy for the genetic counselling of diseases of marked mutational heterogeneity: haemophilia B as a model.

Authors:  F Giannelli; S Saad; A J Montandon; D R Bentley; P M Green
Journal:  J Med Genet       Date:  1992-09       Impact factor: 6.318

2.  Germ-line origins of mutation in families with hemophilia B: the sex ratio varies with the type of mutation.

Authors:  R P Ketterling; E Vielhaber; C D Bottema; D J Schaid; M P Cohen; C L Sexauer; S S Sommer
Journal:  Am J Hum Genet       Date:  1993-01       Impact factor: 11.025

3.  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

4.  The EMBL data library.

Authors:  C M Rice; R Fuchs; D G Higgins; P J Stoehr; G N Cameron
Journal:  Nucleic Acids Res       Date:  1993-07-01       Impact factor: 16.971

5.  Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes.

Authors:  A Ganguly; M J Rock; D J Prockop
Journal:  Proc Natl Acad Sci U S A       Date:  1993-11-01       Impact factor: 11.205

6.  A new missense mutation of fibrillin in a patient with Marfan syndrome.

Authors:  D R Hewett; J R Lynch; A Child; B C Sykes
Journal:  J Med Genet       Date:  1994-04       Impact factor: 6.318

Review 7.  Haemophilia.

Authors:  M R Cahill; B T Colvin
Journal:  Postgrad Med J       Date:  1997-04       Impact factor: 2.401

8.  Recurrent mutations in the factor IX gene: founder effect or repeat de novo events. Investigation of the German haemophilia B population and review of de novo mutations.

Authors:  O Knobloch; B Zoll; K Zerres; H H Brackmann; K Olek; M Ludwig
Journal:  Hum Genet       Date:  1993-08       Impact factor: 4.132

9.  Three novel mutations in five unrelated subjects with hereditary protein S deficiency type I.

Authors:  P H Reitsma; H K Ploos van Amstel; R M Bertina
Journal:  J Clin Invest       Date:  1994-02       Impact factor: 14.808

10.  Liver-specific expression of the human factor VII gene.

Authors:  D Greenberg; C H Miao; W T Ho; D W Chung; E W Davie
Journal:  Proc Natl Acad Sci U S A       Date:  1995-12-19       Impact factor: 11.205
  10 in total

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