| Genotype and laboratory and clinical phenotypes of protein s deficiency. | |
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MedLine Citation:
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PMID: 22261441 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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The diagnosis of thrombophilia caused by protein S deficiency remains difficult. From 2005 to 2010, we documented 135 patients with suspected hereditary protein S deficiency for whom mutational analysis of the PROS1 gene had been performed by direct double-stranded sequencing of the amplified 15 exons including splice sites. Multiplex ligation-dependent probe amplification was performed on 12 of 15 exons in cases with no mutation found but a large deletion in the PROS1 gene was suspected. Mutations were identified in 49 patients, 9 by familial screening. Altogether, 17 new and 11 previously described mutations of PROS1 were identified among the 49 patients. After the exclusion of acquired protein S deficiency due to pregnancy or hormonal contraceptives, there remained only 1 case with protein S activity levels less than 40% that could not be explained by sequence variations or deletions in the examined regions of the PROS1 gene. After the exclusion of conditions associated with acquired protein S deficiency, persistently low protein S activity levels are highly indicative of a genetic alteration in PROS1. We observed a clear correlation between the laboratory phenotype and the type of mutation. |
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Authors:
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Sebastian Duebgen; Teresa Kauke; Christoph Marschall; Andreas Giebl; Susanne Lison; Christina Hart; Andrea Dick; Michael Spannagl |
Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: American journal of clinical pathology Volume: 137 ISSN: 1943-7722 ISO Abbreviation: Am. J. Clin. Pathol. Publication Date: 2012 Feb |
Date Detail:
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Created Date: 2012-01-20 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0370470 Medline TA: Am J Clin Pathol Country: United States |
Other Details:
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Languages: eng Pagination: 178-84 Citation Subset: AIM; IM |
Affiliation:
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Hemostasis Outpatient Clinics, Munich University Hospital, Ziemssenstr 1, D-80336 Munich, Germany. |
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| MeSH Terms | |
Descriptor/Qualifier:
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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