FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2056572226> ?p ?o ?g. }

• W2056572226 endingPage "46" @default.
• W2056572226 startingPage "19" @default.
• W2056572226 abstract "This report describes the characterization of Swedish families with inherited resistance to activated protein C (APC resistance) and/or protein S deficiency, two genetic disorders associated with functional impairment of the protein C anticoagulant pathway. The APC resistance phenotype was linked to the factor V gene locus in a kindred with independent inheritance of APC resistance and protein S deficiency. A point mutation changing Arg506 to a Gln (FV:Q506) in the factor V gene was the cause of APC resistance. In studies of 50 families with hereditary APC resistance, the FV:Q506 mutation was identified in 94% (47/50) of the families, and the thrombotic risk was found to be dependent on the factor V genotype. Moreover, 18 families with hereditary deficiency of free protein S were investigated. Type I protein S deficiency (low free and total protein S) and type III deficiency (low free but normal total protein S) coexisted in 78% (14/18) of the families, suggesting the two types to be phenotypic variants of the same genetic disorder. Deficiency of free protein S was caused by equimolar relationship between protein S and beta-chain containing isoforms of C4BP. Though protein S deficiency was a strong risk factor for thrombosis, the FV:Q506 mutation was identified as an additional genetic risk factor in 39% of the families. Thus, familial thrombophilia is a multiple gene disorder. The thrombophilic tendency associated with APC resistance or protein S deficiency was related to increased levels of prothrombin fragment 1 + 2, reflecting increased activation of the common coagulation pathway." @default.
• W2056572226 created "2016-06-24" @default.
• W2056572226 creator A5074824220 @default.
• W2056572226 date "1996-01-01" @default.
• W2056572226 modified "2023-09-28" @default.
• W2056572226 title "Familial thrombophilia: Clinical and molecular analysis of Swedish families with inherited resistance to activated protein C or protein S deficiency" @default.
• W2056572226 cites W107233682 @default.
• W2056572226 cites W111287064 @default.
• W2056572226 cites W112607963 @default.
• W2056572226 cites W112842645 @default.
• W2056572226 cites W1239656452 @default.
• W2056572226 cites W127753390 @default.
• W2056572226 cites W128983031 @default.
• W2056572226 cites W1497238487 @default.
• W2056572226 cites W1510448773 @default.
• W2056572226 cites W1526957198 @default.
• W2056572226 cites W1528847663 @default.
• W2056572226 cites W1531637520 @default.
• W2056572226 cites W1564703617 @default.
• W2056572226 cites W1565827383 @default.
• W2056572226 cites W157305924 @default.
• W2056572226 cites W1581720380 @default.
• W2056572226 cites W1584149880 @default.
• W2056572226 cites W1586946310 @default.
• W2056572226 cites W1589420516 @default.
• W2056572226 cites W1605065455 @default.
• W2056572226 cites W1639438268 @default.
• W2056572226 cites W168375819 @default.
• W2056572226 cites W1767760985 @default.
• W2056572226 cites W1809087878 @default.
• W2056572226 cites W181091954 @default.
• W2056572226 cites W1822855078 @default.
• W2056572226 cites W185174370 @default.
• W2056572226 cites W1905363000 @default.
• W2056572226 cites W1963595081 @default.
• W2056572226 cites W1965958910 @default.
• W2056572226 cites W1971501970 @default.
• W2056572226 cites W1971602395 @default.
• W2056572226 cites W1972153327 @default.
• W2056572226 cites W1974458756 @default.
• W2056572226 cites W1977528435 @default.
• W2056572226 cites W1977606140 @default.
• W2056572226 cites W1981217502 @default.
• W2056572226 cites W1986593368 @default.
• W2056572226 cites W1986999852 @default.
• W2056572226 cites W1987122951 @default.
• W2056572226 cites W1988826969 @default.
• W2056572226 cites W1991819107 @default.
• W2056572226 cites W1993247867 @default.
• W2056572226 cites W1995474189 @default.
• W2056572226 cites W1996950530 @default.
• W2056572226 cites W1999689804 @default.
• W2056572226 cites W2000143497 @default.
• W2056572226 cites W2000384057 @default.
• W2056572226 cites W2003809236 @default.
• W2056572226 cites W2005493980 @default.
• W2056572226 cites W2011895219 @default.
• W2056572226 cites W2015215397 @default.
• W2056572226 cites W2015223280 @default.
• W2056572226 cites W2017967816 @default.
• W2056572226 cites W2020594282 @default.
• W2056572226 cites W2026197140 @default.
• W2056572226 cites W2026250939 @default.
• W2056572226 cites W2026798066 @default.
• W2056572226 cites W2026991766 @default.
• W2056572226 cites W2032299882 @default.
• W2056572226 cites W2033498962 @default.
• W2056572226 cites W2034127014 @default.
• W2056572226 cites W2037143212 @default.
• W2056572226 cites W2039313371 @default.
• W2056572226 cites W2041349540 @default.
• W2056572226 cites W2041939269 @default.
• W2056572226 cites W2044790853 @default.
• W2056572226 cites W2048856171 @default.
• W2056572226 cites W2049285959 @default.
• W2056572226 cites W2052321442 @default.
• W2056572226 cites W2053597970 @default.
• W2056572226 cites W2059308063 @default.
• W2056572226 cites W2063225647 @default.
• W2056572226 cites W2066846254 @default.
• W2056572226 cites W2069343109 @default.
• W2056572226 cites W2076033118 @default.
• W2056572226 cites W2077770912 @default.
• W2056572226 cites W2077999696 @default.
• W2056572226 cites W2079199856 @default.
• W2056572226 cites W2081181859 @default.
• W2056572226 cites W2083592362 @default.
• W2056572226 cites W2085445739 @default.
• W2056572226 cites W2086285503 @default.
• W2056572226 cites W2090368722 @default.
• W2056572226 cites W2091134669 @default.
• W2056572226 cites W2091407374 @default.
• W2056572226 cites W2091961869 @default.
• W2056572226 cites W2097442427 @default.
• W2056572226 cites W2104062454 @default.
• W2056572226 cites W2105515856 @default.
• W2056572226 cites W2114152867 @default.
• W2056572226 cites W2123294426 @default.

• next