Literature DB >> 17217158

A novel nonsense mutation in exon 2 of the factor IX gene resulting in severe haemophilia B.

Marcello Niceta, Carmelo Fabiano, Pietro Sammarco, Fabio Gagliano, Giacomo Mancuso.   

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Year:  2006        PMID： 17217158     DOI： 10.1007/BF02934771

Source DB:  PubMed          Journal:  Intern Emerg Med        ISSN： 1828-0447            Impact factor:   3.397


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  8 in total

1.  Twenty-five novel mutations of the factor IX gene in haemophilia B.

Authors:  K Wulff; W Schröder; M Wehnert; F H Herrmann
Journal:  Hum Mutat       Date:  1995       Impact factor: 4.878

2.  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

3.  Germline origins in the human F9 gene: frequent G:C-->A:T mosaicism and increased mutations with advanced maternal age.

Authors:  R P Ketterling; E Vielhaber; X Li; J Drost; D J Schaid; C K Kasper; J A Phillips; M A Koerper; H Kim; C Sexauer; R Gruppo; R Ambriz; R Paredes; S S Sommer
Journal:  Hum Genet       Date:  1999-12       Impact factor: 4.132

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.  Regional localization on the human X chromosome and polymorphism of the coagulation factor IX gene (hemophilia B locus).

Authors:  G Camerino; K H Grzeschik; M Jaye; H De La Salle; P Tolstoshev; J P Lecocq; R Heilig; J L Mandel
Journal:  Proc Natl Acad Sci U S A       Date:  1984-01       Impact factor: 11.205

Review 6.  Assessing the underlying pattern of human germline mutations: lessons from the factor IX gene.

Authors:  S S Sommer
Journal:  FASEB J       Date:  1992-07       Impact factor: 5.191

7.  Factor IX is activated in vivo by the tissue factor mechanism.

Authors:  K A Bauer; B L Kass; H ten Cate; J J Hawiger; R D Rosenberg
Journal:  Blood       Date:  1990-08-15       Impact factor: 22.113

Review 8.  Haemophilias A and B.

Authors:  Paula H B Bolton-Maggs; K John Pasi
Journal:  Lancet       Date:  2003-05-24       Impact factor: 79.321
  8 in total

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