Literature DB >> 15333045

A 13 base pair deletion in the GPIbbeta gene in a second unrelated Bernard-Soulier family due to slipped mispairing between direct repeats.

C Strassel, M-C Alessi, I Juhan-Vague, J-P Cazenave, F Lanza.   

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Year:  2004        PMID： 15333045     DOI： 10.1111/j.1538-7836.2004.00895.x

Source DB:  PubMed          Journal:  J Thromb Haemost        ISSN： 1538-7836            Impact factor:   5.824


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  2 in total

1.  Clinical and genetic aspects of Bernard-Soulier syndrome: searching for genotype/phenotype correlations.

Authors:  Anna Savoia; Annalisa Pastore; Daniela De Rocco; Elisa Civaschi; Mariateresa Di Stazio; Roberta Bottega; Federica Melazzini; Valeria Bozzi; Alessandro Pecci; Silvana Magrin; Carlo L Balduini; Patrizia Noris
Journal:  Haematologica       Date:  2010-12-20       Impact factor: 9.941

Review 2.  Bernard-Soulier syndrome (hemorrhagiparous thrombocytic dystrophy).

Authors:  François Lanza
Journal:  Orphanet J Rare Dis       Date:  2006-11-16       Impact factor: 4.123
  2 in total

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