Literature DB >> 1968152

"Founder" effect in different families with haemophilia B mutation.

A R Thompson, S P Bajaj, S H Chen, R T MacGillivray.   

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Year:  1990        PMID： 1968152     DOI： 10.1016/0140-6736(90)90259-8

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


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  22 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.

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

3.  Mutation Spectrum and Genotype-Phenotype Analyses in a Pakistani Cohort With Hemophilia B.

Authors:  Muhammad Tariq Masood Khan; Arshi Naz; Jawad Ahmed; Tahir Shamsi; Shariq Ahmed; Nisar Ahmed; Ayisha Imran; Nazish Farooq; Muhammad Tariq Hamayun Khan; Abid Sohail Taj
Journal:  Clin Appl Thromb Hemost       Date:  2017-07-28       Impact factor: 2.389

4.  Missense mutations and evolutionary conservation of amino acids: evidence that many of the amino acids in factor IX function as "spacer" elements.

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

5.  Single nucleotide primer extension to detect genetic diseases: experimental application to hemophilia B (factor IX) and cystic fibrosis genes.

Authors:  M N Kuppuswamy; J W Hoffmann; C K Kasper; S G Spitzer; S L Groce; S P Bajaj
Journal:  Proc Natl Acad Sci U S A       Date:  1991-02-15       Impact factor: 11.205

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.  The pattern of spontaneous germ-line mutation: relative rates of mutation at or near CpG dinucleotides in the factor IX gene.

Authors:  C D Bottema; R P Ketterling; E Vielhaber; H S Yoon; B Gostout; D P Jacobson; A Shapiro; S S Sommer
Journal:  Hum Genet       Date:  1993-06       Impact factor: 4.132

8.  CG dinucleotide transitions in the factor IX gene account for about half of the point mutations in hemophilia B patients: a Seattle series.

Authors:  S H Chen; M Zhang; E W Lovrien; C R Scott; A R Thompson
Journal:  Hum Genet       Date:  1991-06       Impact factor: 4.132

Review 9.  Recent advances in hemophilia B therapy.

Authors:  Sarena D Horava; Nicholas A Peppas
Journal:  Drug Deliv Transl Res       Date:  2017-06       Impact factor: 4.617

10.  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
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