Literature DB >> 1902289

Isoleucine397 is changed to threonine in two females with hemophilia B.

G Sarkar1, J D Cassady, R E Pyeritz, G S Gilchrist, S S Sommer.   

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Year:  1991        PMID： 1902289      PMCID： PMC333819          DOI： 10.1093/nar/19.5.1165

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


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  5 in total

1.  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

2.  Characterization of polymerase chain reaction amplification of specific alleles.

Authors:  G Sarkar; J Cassady; C D Bottema; S S Sommer
Journal:  Anal Biochem       Date:  1990-04       Impact factor: 3.365

3.  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

4.  The incidence and distribution of CpG----TpG transitions in the coagulation factor IX gene. A fresh look at CpG mutational hotspots.

Authors:  P M Green; A J Montandon; D R Bentley; R Ljung; I M Nilsson; F Giannelli
Journal:  Nucleic Acids Res       Date:  1990-06-11       Impact factor: 16.971

5.  A past mutation at isoleucine 397 is now a common cause of moderate/mild haemophilia B.

Authors:  C D Bottema; D D Koeberl; R P Ketterling; E J Bowie; S A Taylor; D Lillicrap; A Shapiro; G Gilchrist; S S Sommer
Journal:  Br J Haematol       Date:  1990-06       Impact factor: 6.998
  5 in total

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