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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Détails bibliographiques
Auteurs principaux: Tagariello, Giuseppe, Belvini, Donata, Salviato, Roberta, Di Gaetano, Rosanna, Zanotto, Daniela, Radossi, Paolo, Risato, Renzo, Sartori, Roberto, Tassinari, Cristina
Format: Artigo
Langue:Inglês
Publié: SIMTI Servizi Srl 2007
Sujets:
Original Articles
Accès en ligne: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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