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Article

A large Swiss family with Bernard-Soulier syndrome - Correlation phenotype and genotype.

Hamostaseologie - 1 May 2009

Zieger B, Jenny A, Tsakiris D A, Bartsch I, Sandrock K, Schubart C, Schäfer S, Busse An, Wuillemin Walter A

Abstract excerpt

Bernard-Soulier syndrome (BSS) is a rare, autosomal recessive inherited bleeding disorder associated with thrombocytopenia, thrombocytopathy and giant platelets. BSS is caused by genetic alterations of the glycoprotein (GP) Ib/V/IX complex. We report on a large Swiss family of whom four family members suffer from BSS. Here, a homozygous missense mutation in position 1829 (A(R)G) of the GPIX gene constituting a...

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PMID: 19404517

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