Protein C deficiency resulting from two mutations in PROC presenting with recurrent venous thromboembolism
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DOI: 10.1016/j.jvscit.2017.11.002
Abstract: Hereditary protein C (PC) deficiency is an autosomal dominant disorder associated with a high risk of venous thromboembolism (VTE). Here we report a case of inherited PC deficiency associated with recurrent deep venous thrombosis. Two… read more here.
Keywords: venous thromboembolism; protein deficiency; two mutations; deficiency ... See more keywords
Identification of a novel FUT1 allele with two mutations in a Chinese para‐Bombay individual
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DOI: 10.1111/trf.13879
Abstract: The para‐Bombay phenotype often results from a silenced β‐D‐galactoside 2‐α‐fucosyltransferase 1 (FUT1) gene (h/h) but an active FUT2 (Se/Se or Se/se) gene. We identified a para‐Bombay phenotype with two novel mutations in the FUT1 gene… read more here.
Keywords: para bombay; fut1 allele; identification novel; novel fut1 ... See more keywords