A hitherto unknown splice site defect in the protein s gene (PROS1): The mutation results in allelic exclusion and causes type I and type III protein S deficiency

British Journal of Haematology

Volumn 99, Issue 2, 1997, Pages 298-300

  Mustafa, Stefan ^a   Pabinger, Ingrid ^a   Vàradi, Katalin ^b   Halbmayer, Walter Michael ^c   Lechner, Klaus ^a   Schwarz, Hans Peter ^b   Fischer, Michael ^c   Mannhalter, Christine ^a,d  

^a MEDICAL UNIVERSITY OF VIENNA   (Austria)

^b BAXTER HEALTHCARE CORPORATION   (United States)

^c GENERAL HOSPITAL LINZ   (Austria)

^d UNIVERSITY OF VIENNA   (Austria)

Author keywords

Allelic exclusion; Protein S; Protein S deficiency; Protein S gene defect; Splice site mutation

Indexed keywords

PROTEIN S;

ADULT; ALLELE; ARTICLE; CASE REPORT; GENE MUTATION; HUMAN; INTRON; MALE; PEDIGREE ANALYSIS; PRIORITY JOURNAL; PROTEIN S DEFICIENCY; RNA SPLICING; THROMBOPHILIA; THROMBOSIS;

EID: 0030663979     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.1997.3883202.x     Document Type: Article

References (12)

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