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

By Fujimura H.   Kambayashi J.-i.   Kato H.   Sakon M.   Kawasaki T.   Ariyoshi H.   Suehisa E.   Monden M.   Miyata T.  

Thrombosis Research, Vol. 89, Iss. 4, 1998-02 ,pp. : 151-160

Elsevier

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A Novel Splice Acceptor Site Mutation of Protein S Gene in Affected Individuals with Type I Protein S Deficiency: Allelic Exclusion of the Mutant Gene

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Nonsense mutation arg197stop in a dutch family with type 1 hereditary antithrombin (AT) deficiency causing thrombophilia

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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

By Beyens G.   Wuyts W.   Cleiren E.   Freitas F.   Tiegs R.   Hul W.  

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A patient with pseudohypoaldosteronism type II caused by a novel mutation in WNK4 gene

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