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

INTRODUCTION: The Italian database of factor IX gene (F9) mutations has been built since 2001 and is, so far, the most practical instrument for comprehensive genetic counselling, carrier detection and prenatal diagnosis. Over time the haemophilia B database has been enriched by entries on a larger n...

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Detalhes bibliográficos
Main Authors: Tagariello, Giuseppe, Belvini, Donata, Salviato, Roberta, Di Gaetano, Rosanna, Zanotto, Daniela, Radossi, Paolo, Risato, Renzo, Sartori, Roberto, Tassinari, Cristina
Formato: Artigo
Idioma:Inglês
Publicado em: SIMTI Servizi Srl 2007
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2535890/
https://ncbi.nlm.nih.gov/pubmed/19204769
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2450/2007.0024-07
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