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Elsevier

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Failure in the Detection of Aberrant mRNA from the Heterozygotic Splice Site Mutant Allele for Protein S in a Patient with Protein S Deficiency

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A Novel Type of Mutation at the Propeptide Cleavage Site (AlA+1Thr) Causing Symptomatic Protein C Type II Deficiency

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Identification and Molecular Characterization of a Novel Splice-Site Mutation ( G1205C ) in the SQSTM1 Gene Causing Paget’s Disease of Bone in an Extended American Family

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Three Novel Missense Mutations in Unrelated Japanese Patients with Type I and Type II Protein S Deficiency and Venous Thrombosis - Detection of an Ala601-Thr mutation in 118 out of 125 families and identification of a new Asp676-Asn mutation

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