Literature DB >> 8199596

A novel mutation (Val-373 to Glu) in the catalytic domain of factor IX, resulting in moderately/severe hemophilia B in a southern French patient.

P Aguilar-Martinez1, M C Romey, J C Gris, J F Schved, J Demaille, M Claustres.   

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Year:  1994        PMID： 8199596     DOI： 10.1002/humu.1380030211

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  2 in total

1.  Factor IX gene mutations causing haemophilia B: comparison of SSC screening versus systematic DNA sequencing and diagnostic applications.

Authors:  P Aguilar-Martinez; M C Romey; J F Schved; J C Gris; J Demaille; M Claustres
Journal:  Hum Genet       Date:  1994-09       Impact factor: 4.132

2.  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
  2 in total

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