Literature DB >> 27694504

The higher prevalence of missense mutations in hemophilia B compared to hemophilia A could be important in determining a milder clinical phenotype in patients with severe hemophilia B.

Daniela Melchiorre1, Silvia Linari2, Giancarlo Castaman2.   

Abstract

Entities:  

Keywords:  hemophila; hemophilia B; missense mutations

Mesh：

Substances：

Year:  2016        PMID： 27694504      PMCID： PMC5046668          DOI： 10.3324/haematol.2016.150839

Source DB:  PubMed          Journal:  Haematologica        ISSN： 0390-6078            Impact factor:   9.941


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  4 in total

1.  The Italian haemophilia B mutation database: a tool for genetic counselling, carrier detection and prenatal diagnosis.

Authors:  Giuseppe Tagariello; Donata Belvini; Roberta Salviato; Rosanna Di Gaetano; Daniela Zanotto; Paolo Radossi; Renzo Risato; Roberto Sartori; Cristina Tassinari
Journal:  Blood Transfus       Date:  2007-07       Impact factor: 3.443

2.  Why should hemophilia B be milder than hemophilia A?

Authors:  Shrimati Shetty; Kanjaksha Ghosh
Journal:  Haematologica       Date:  2016-05       Impact factor: 9.941

3.  Clinical, instrumental, serological and histological findings suggest that hemophilia B may be less severe than hemophilia A.

Authors:  Daniela Melchiorre; Silvia Linari; Mirko Manetti; Eloisa Romano; Francesco Sofi; Marco Matucci-Cerinic; Christian Carulli; Massimo Innocenti; Lidia Ibba-Manneschi; Giancarlo Castaman
Journal:  Haematologica       Date:  2015-10-22       Impact factor: 9.941

4.  Ribosome readthrough accounts for secreted full-length factor IX in hemophilia B patients with nonsense mutations.

Authors:  Mirko Pinotti; Pierpaolo Caruso; Alessandro Canella; Matteo Campioni; Giuseppe Tagariello; Giancarlo Castaman; Sofia Giacomelli; Donata Belvini; Francesco Bernardi
Journal:  Hum Mutat       Date:  2012-06-11       Impact factor: 4.878
  4 in total

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