Literature DB >> 1970868

Mutations at arginine residues in two Asian hemophilia B patients.

C D Bottema1, R P Ketterling, D D Koeberl, S A Taylor, S S Sommer.   

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Year:  1990        PMID： 1970868      PMCID： PMC330647          DOI： 10.1093/nar/18.7.1924

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


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  5 in total

1.  Blood clotting factor IX Kashihara: amino acid substitution of valine-182 by phenylalanine.

Authors:  T Sakai; A Yoshioka; K Yamamoto; K Niinomi; Y Fujimura; H Fukui; T Miyata; S Iwanaga
Journal:  J Biochem       Date:  1989-05       Impact factor: 3.387

2.  Functionally important regions of the factor IX gene have a low rate of polymorphism and a high rate of mutation in the dinucleotide CpG.

Authors:  D D Koeberl; C D Bottema; J M Buerstedde; S S Sommer
Journal:  Am J Hum Genet       Date:  1989-09       Impact factor: 11.025

3.  Blood clotting factor IX Niigata: substitution of alanine-390 by valine in the catalytic domain.

Authors:  M Sugimoto; T Miyata; S Kawabata; A Yoshioka; H Fukui; H Takahashi; S Iwanaga
Journal:  J Biochem       Date:  1988-12       Impact factor: 3.387

4.  Factor IX Kawachinagano: impaired function of the Gla-domain caused by attached propeptide region due to substitution of arginine by glutamine at position -4.

Authors:  M Sugimoto; T Miyata; S Kawabata; A Yoshioka; H Fukui; S Iwanaga
Journal:  Br J Haematol       Date:  1989-06       Impact factor: 6.998

5.  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
  5 in total
  7 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.  The pattern of factor IX germ-line mutation in Asians is similar to that of Caucasians.

Authors:  C D Bottema; R P Ketterling; H S Yoon; S S Sommer
Journal:  Am J Hum Genet       Date:  1990-11       Impact factor: 11.025

4.  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

5.  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

6.  Why does the human factor IX gene have a G + C content of 40%?

Authors:  C D Bottema; M J Bottema; R P Ketterling; H S Yoon; R L Janco; J A Phillips; S S Sommer
Journal:  Am J Hum Genet       Date:  1991-10       Impact factor: 11.025

7.  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
  7 in total

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