Hereditary thrombophilia in a family with three independent protein S and C mutations. A cause of adverse perinatal outcome
A non-related couple with two independent protein S and a protein C mutation had two of their three children suffering from severe thrombosis resulting in neonatal death of the firstborn. With prenatal testing an accurate prediction of phenotype was possible for the second child but the third infant...
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| Veröffentlicht in: | European journal of obstetrics & gynecology and reproductive biology 1998-10, Vol.80 (2), p.283-285 |
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| container_end_page | 285 |
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| container_issue | 2 |
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| container_title | European journal of obstetrics & gynecology and reproductive biology |
| container_volume | 80 |
| creator | Schild, Ralf L Lobb, Mike O Voke, Jennifer M |
| description | A non-related couple with two independent protein S and a protein C mutation had two of their three children suffering from severe thrombosis resulting in neonatal death of the firstborn. With prenatal testing an accurate prediction of phenotype was possible for the second child but the third infant was more severely affected than had been predicted from the genotype. |
| doi_str_mv | 10.1016/S0301-2115(98)00145-6 |
| format | Article |
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A cause of adverse perinatal outcome</atitle><jtitle>European journal of obstetrics & gynecology and reproductive biology</jtitle><addtitle>Eur J Obstet Gynecol Reprod Biol</addtitle><date>1998-10-01</date><risdate>1998</risdate><volume>80</volume><issue>2</issue><spage>283</spage><epage>285</epage><pages>283-285</pages><issn>0301-2115</issn><eissn>1872-7654</eissn><coden>EOGRAL</coden><abstract>A non-related couple with two independent protein S and a protein C mutation had two of their three children suffering from severe thrombosis resulting in neonatal death of the firstborn. With prenatal testing an accurate prediction of phenotype was possible for the second child but the third infant was more severely affected than had been predicted from the genotype.</abstract><cop>Shannon</cop><pub>Elsevier Ireland Ltd</pub><pmid>9846686</pmid><doi>10.1016/S0301-2115(98)00145-6</doi><tpages>3</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0301-2115 |
| ispartof | European journal of obstetrics & gynecology and reproductive biology, 1998-10, Vol.80 (2), p.283-285 |
| issn | 0301-2115 1872-7654 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_70102270 |
| source | MEDLINE; Elsevier ScienceDirect Journals |
| subjects | Adult Anticoagulants - therapeutic use Biological and medical sciences Fatal Outcome Female Hematologic and hematopoietic diseases Humans Infant, Newborn Medical sciences Mutation Neonatal thrombosis Platelet diseases and coagulopathies Polymorphism, Restriction Fragment Length Pregnancy Pregnancy outcome Prenatal Diagnosis Protein C - genetics Protein C - therapeutic use Protein C and S mutations Protein S - genetics Renal Veins Thrombophilia - complications Thrombophilia - drug therapy Thrombophilia - genetics Thrombosis - drug therapy Thrombosis - etiology Thrombosis - genetics |
| title | Hereditary thrombophilia in a family with three independent protein S and C mutations. A cause of adverse perinatal outcome |
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