Literature DB >> 2557585

Hemophilia B in a male with a four-base insertion that arose in the germline of his mother.

C D Bottema1, R P Ketterling, H I Cho, S S Sommer.   

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Year:  1989        PMID： 2557585      PMCID： PMC335274          DOI： 10.1093/nar/17.23.10139

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


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  2 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.  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
  2 in total
  12 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.  Mechanisms of insertional mutagenesis in human genes causing genetic disease.

Authors:  D N Cooper; M Krawczak
Journal:  Hum Genet       Date:  1991-08       Impact factor: 4.132

4.  New nucleotide sequence data on the EMBL File Server.

Authors: 
Journal:  Nucleic Acids Res       Date:  1990-01-25       Impact factor: 16.971

5.  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

6.  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

7.  Germ line origins of de novo mutations in hemophilia B families.

Authors:  A R Thompson; S H Chen
Journal:  Hum Genet       Date:  1994-09       Impact factor: 4.132

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.  Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.

Authors:  C M Eng; L A Resnick-Silverman; D J Niehaus; K H Astrin; R J Desnick
Journal:  Am J Hum Genet       Date:  1993-12       Impact factor: 11.025

10.  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
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