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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
Author(s) -
Mustafa Stefan,
Pabinger Ingrid,
Vàradi Katalin,
Halbmayer WalterMichael,
Lechner Klaus,
Schwarz Hans Peter,
Fischer Michael,
Mannhalter Christine
Publication year - 1997
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1046/j.1365-2141.1997.3883202.x
Subject(s) - splice site mutation , intron , mutation , genetics , biology , splice , allele , exon , rna splicing , gene , protein s , mutant protein , mutant , protein s deficiency , microbiology and biotechnology , rna , protein c , biochemistry
A hitherto unknown splice site mutation, in the splice acceptor of intron B (tctag to tctgg), was identified in a symptomatic patient with type III protein S deficiency. The mutation co‐segregated with type I/III protein S deficiency in the patient's family. RNA analysis showed allelic exclusion of the mutant transcript in affected individuals. The apparent type III deficiency in the propositus was not associated with the protein S Heerlen variant.