Compound heterozygosity of novel missense mutations in the gamma -glutamyl -carboxylase gene causes hereditary combined vitamin k-dependent coagulation factor deficiency
- Author
- DARGHOUTH, Dhouha; HALLGREN, Kevin W; SHTOFMAN, Rebecca L; MRAD, Amel; GHARBI, Youssef; MAHERZI, Ahmed; KASTALLY, Radhia; LERICOUSSE, Sophie; BERKNER, Kathleen L; ROSA, Jean-Philippe
[1] Laboratory of Hemostasis and Thrombosis, U689 Institut National de la Santé et de la Recherche Médicale, Institut Fédératif de Recherche 139, University Paris 7, Hôpital Lariboisière, France
[2] Departments of Molecular Cardiology and Molecular Genetics, Lerner Research Institute, Cleveland Clinic, Foundation, OH, United States
[3] Laboratory of Hematology, Hôpital Habib Thameur, Tunis, Tunisia
[4] Department of Pediatrics, Hôpital Mongi Slim, La Marsa, Tunisia - Source
Blood. 2006, Vol 108, Num 6, pp 1925-1931, 7 p ; ref : 57 ref
- ISSN
- 0006-4971
- Scientific domain
- Medical oncology; Hematology
- Publisher
- The Americain Society of Hematology, Washington, DC
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Carboxylase Déficit facteur coagulation Etude cas Facteur coagulation Gène Génétique Homme Hétérozygotie composée Mutation faux sens Vitamine K Gène VCORC1 Coagulopathie Enzyme Maladie héréditaire
- Keyword (en)
- Carboxylase Coagulation factor deficiency Case study Coagulation factor Gene Genetics Human Compound heterozygozity Missense mutation Vitamin K Coagulopathy Enzyme Genetic disease
- Keyword (es)
- Carboxylase Deficiencia factor coagulación Estudio caso Factor coagulación Gen Genética Hombre Heterozigosis compuesta Mutación falso sentido Vitamina K Coagulopatía Enzima Enfermedad hereditaria
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B19 Hematologic and hematopoietic diseases / 002B19C Platelet diseases and coagulopathies
- Discipline
- Blood diseases
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 18107082
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
Access to the document
Install on your browser
DOI
10.1182/blood-2005-12-010660 
https://dx.doi.org/10.1182/blood-2005-12-010660
"O:13:\"PanistOpenUrl\":36:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000idc\";N;s:6:\"\u0000*\u0000fmt\";s:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:28:\"10.1182\/blood-2005-12-010660\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:169:\"Compound heterozygosity of novel missense mutations in the gamma -glutamyl -carboxylase gene causes hereditary combined vitamin k-dependent coagulation factor deficiency\";s:9:\"\u0000*\u0000jtitle\";s:5:\"Blood\";s:9:\"\u0000*\u0000stitle\";s:5:\"Blood\";s:7:\"\u0000*\u0000date\";s:4:\"2006\";s:9:\"\u0000*\u0000volume\";s:3:\"108\";s:8:\"\u0000*\u0000issue\";s:1:\"6\";s:8:\"\u0000*\u0000spage\";s:4:\"1925\";s:8:\"\u0000*\u0000epage\";s:4:\"1931\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0006-4971\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:9:\"DARGHOUTH\";s:10:\"\u0000*\u0000aufirst\";s:6:\"Dhouha\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:9:{i:0;s:17:\"HALLGREN, Kevin W\";i:1;s:19:\"SHTOFMAN, Rebecca L\";i:2;s:10:\"MRAD, Amel\";i:3;s:15:\"GHARBI, Youssef\";i:4;s:14:\"MAHERZI, Ahmed\";i:5;s:16:\"KASTALLY, Radhia\";i:6;s:18:\"LERICOUSSE, Sophie\";i:7;s:19:\"BERKNER, Kathleen L\";i:8;s:19:\"ROSA, Jean-Philippe\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:0:\"\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:169:\"Compound heterozygosity of novel missense mutations in the gamma -glutamyl -carboxylase gene causes hereditary combined vitamin k-dependent coagulation factor deficiency\";s:8:\"\u0000*\u0000place\";s:14:\"Washington, DC\";s:6:\"\u0000*\u0000pub\";s:35:\"The Americain Society of Hematology\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:1:\"7\";s:9:\"\u0000*\u0000series\";s:0:\"\";s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";b:1;}"
Panist access
"O:12:\"IstexOpenUrl\":35:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000fmt\";s:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:28:\"10.1182\/blood-2005-12-010660\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:169:\"Compound heterozygosity of novel missense mutations in the gamma -glutamyl -carboxylase gene causes hereditary combined vitamin k-dependent coagulation factor deficiency\";s:9:\"\u0000*\u0000jtitle\";s:5:\"Blood\";s:9:\"\u0000*\u0000stitle\";s:5:\"Blood\";s:7:\"\u0000*\u0000date\";s:4:\"2006\";s:9:\"\u0000*\u0000volume\";s:3:\"108\";s:8:\"\u0000*\u0000issue\";s:1:\"6\";s:8:\"\u0000*\u0000spage\";s:4:\"1925\";s:8:\"\u0000*\u0000epage\";s:4:\"1931\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0006-4971\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:9:\"DARGHOUTH\";s:10:\"\u0000*\u0000aufirst\";s:6:\"Dhouha\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:9:{i:0;s:17:\"HALLGREN, Kevin W\";i:1;s:19:\"SHTOFMAN, Rebecca L\";i:2;s:10:\"MRAD, Amel\";i:3;s:15:\"GHARBI, Youssef\";i:4;s:14:\"MAHERZI, Ahmed\";i:5;s:16:\"KASTALLY, Radhia\";i:6;s:18:\"LERICOUSSE, Sophie\";i:7;s:19:\"BERKNER, Kathleen L\";i:8;s:19:\"ROSA, Jean-Philippe\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:0:\"\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:169:\"Compound heterozygosity of novel missense mutations in the gamma -glutamyl -carboxylase gene causes hereditary combined vitamin k-dependent coagulation factor deficiency\";s:8:\"\u0000*\u0000place\";s:14:\"Washington, DC\";s:6:\"\u0000*\u0000pub\";s:35:\"The Americain Society of Hematology\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:1:\"7\";s:9:\"\u0000*\u0000series\";s:0:\"\";s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";b:1;}"
Istex access
"O:16:\"UnpaywallOpenUrl\":35:{s:8:\"\u0000*\u0000email\";s:27:\"assistance-portail@inist.fr\";s:6:\"\u0000*\u0000fmt\";N;s:6:\"\u0000*\u0000doi\";s:28:\"10.1182\/blood-2005-12-010660\";s:6:\"\u0000*\u0000pii\";N;s:7:\"\u0000*\u0000pmid\";N;s:9:\"\u0000*\u0000atitle\";N;s:9:\"\u0000*\u0000jtitle\";N;s:9:\"\u0000*\u0000stitle\";N;s:7:\"\u0000*\u0000date\";N;s:9:\"\u0000*\u0000volume\";N;s:8:\"\u0000*\u0000issue\";N;s:8:\"\u0000*\u0000spage\";N;s:8:\"\u0000*\u0000epage\";N;s:8:\"\u0000*\u0000pages\";N;s:7:\"\u0000*\u0000issn\";N;s:8:\"\u0000*\u0000eissn\";N;s:9:\"\u0000*\u0000aulast\";N;s:10:\"\u0000*\u0000aufirst\";N;s:9:\"\u0000*\u0000auinit\";N;s:10:\"\u0000*\u0000auinitm\";N;s:5:\"\u0000*\u0000au\";N;s:9:\"\u0000*\u0000aucorp\";N;s:7:\"\u0000*\u0000isbn\";N;s:8:\"\u0000*\u0000coden\";N;s:8:\"\u0000*\u0000genre\";N;s:7:\"\u0000*\u0000part\";N;s:9:\"\u0000*\u0000btitle\";N;s:8:\"\u0000*\u0000title\";N;s:8:\"\u0000*\u0000place\";N;s:6:\"\u0000*\u0000pub\";N;s:10:\"\u0000*\u0000edition\";N;s:9:\"\u0000*\u0000tpages\";N;s:9:\"\u0000*\u0000series\";N;s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";N;}"
Unpaywall access
"O:16:\"EuropePMCOpenUrl\":35:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000fmt\";s:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:28:\"10.1182\/blood-2005-12-010660\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:169:\"Compound heterozygosity of novel missense mutations in the gamma -glutamyl -carboxylase gene causes hereditary combined vitamin k-dependent coagulation factor deficiency\";s:9:\"\u0000*\u0000jtitle\";s:5:\"Blood\";s:9:\"\u0000*\u0000stitle\";s:5:\"Blood\";s:7:\"\u0000*\u0000date\";s:4:\"2006\";s:9:\"\u0000*\u0000volume\";s:3:\"108\";s:8:\"\u0000*\u0000issue\";s:1:\"6\";s:8:\"\u0000*\u0000spage\";s:4:\"1925\";s:8:\"\u0000*\u0000epage\";s:4:\"1931\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0006-4971\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:9:\"DARGHOUTH\";s:10:\"\u0000*\u0000aufirst\";s:6:\"Dhouha\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:9:{i:0;s:17:\"HALLGREN, Kevin W\";i:1;s:19:\"SHTOFMAN, Rebecca L\";i:2;s:10:\"MRAD, Amel\";i:3;s:15:\"GHARBI, Youssef\";i:4;s:14:\"MAHERZI, Ahmed\";i:5;s:16:\"KASTALLY, Radhia\";i:6;s:18:\"LERICOUSSE, Sophie\";i:7;s:19:\"BERKNER, Kathleen L\";i:8;s:19:\"ROSA, Jean-Philippe\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:0:\"\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:169:\"Compound heterozygosity of novel missense mutations in the gamma -glutamyl -carboxylase gene causes hereditary combined vitamin k-dependent coagulation factor deficiency\";s:8:\"\u0000*\u0000place\";s:14:\"Washington, DC\";s:6:\"\u0000*\u0000pub\";s:35:\"The Americain Society of Hematology\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:1:\"7\";s:9:\"\u0000*\u0000series\";s:0:\"\";s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";b:1;}"
Europe PubMed Central access
"O:11:\"BaseOpenUrl\":35:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000fmt\";s:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:28:\"10.1182\/blood-2005-12-010660\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:169:\"Compound heterozygosity of novel missense mutations in the gamma -glutamyl -carboxylase gene causes hereditary combined vitamin k-dependent coagulation factor deficiency\";s:9:\"\u0000*\u0000jtitle\";s:5:\"Blood\";s:9:\"\u0000*\u0000stitle\";s:5:\"Blood\";s:7:\"\u0000*\u0000date\";s:4:\"2006\";s:9:\"\u0000*\u0000volume\";s:3:\"108\";s:8:\"\u0000*\u0000issue\";s:1:\"6\";s:8:\"\u0000*\u0000spage\";s:4:\"1925\";s:8:\"\u0000*\u0000epage\";s:4:\"1931\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0006-4971\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:9:\"DARGHOUTH\";s:10:\"\u0000*\u0000aufirst\";s:6:\"Dhouha\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:9:{i:0;s:17:\"HALLGREN, Kevin W\";i:1;s:19:\"SHTOFMAN, Rebecca L\";i:2;s:10:\"MRAD, Amel\";i:3;s:15:\"GHARBI, Youssef\";i:4;s:14:\"MAHERZI, Ahmed\";i:5;s:16:\"KASTALLY, Radhia\";i:6;s:18:\"LERICOUSSE, Sophie\";i:7;s:19:\"BERKNER, Kathleen L\";i:8;s:19:\"ROSA, Jean-Philippe\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:0:\"\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:169:\"Compound heterozygosity of novel missense mutations in the gamma -glutamyl -carboxylase gene causes hereditary combined vitamin k-dependent coagulation factor deficiency\";s:8:\"\u0000*\u0000place\";s:14:\"Washington, DC\";s:6:\"\u0000*\u0000pub\";s:35:\"The Americain Society of Hematology\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:1:\"7\";s:9:\"\u0000*\u0000series\";s:0:\"\";s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";b:1;}"
Base Search access
"O:12:\"ArXivOpenUrl\":35:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000fmt\";s:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:28:\"10.1182\/blood-2005-12-010660\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:169:\"Compound heterozygosity of novel missense mutations in the gamma -glutamyl -carboxylase gene causes hereditary combined vitamin k-dependent coagulation factor deficiency\";s:9:\"\u0000*\u0000jtitle\";s:5:\"Blood\";s:9:\"\u0000*\u0000stitle\";s:5:\"Blood\";s:7:\"\u0000*\u0000date\";s:4:\"2006\";s:9:\"\u0000*\u0000volume\";s:3:\"108\";s:8:\"\u0000*\u0000issue\";s:1:\"6\";s:8:\"\u0000*\u0000spage\";s:4:\"1925\";s:8:\"\u0000*\u0000epage\";s:4:\"1931\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0006-4971\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:9:\"DARGHOUTH\";s:10:\"\u0000*\u0000aufirst\";s:6:\"Dhouha\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:9:{i:0;s:17:\"HALLGREN, Kevin W\";i:1;s:19:\"SHTOFMAN, Rebecca L\";i:2;s:10:\"MRAD, Amel\";i:3;s:15:\"GHARBI, Youssef\";i:4;s:14:\"MAHERZI, Ahmed\";i:5;s:16:\"KASTALLY, Radhia\";i:6;s:18:\"LERICOUSSE, Sophie\";i:7;s:19:\"BERKNER, Kathleen L\";i:8;s:19:\"ROSA, Jean-Philippe\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:0:\"\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:169:\"Compound heterozygosity of novel missense mutations in the gamma -glutamyl -carboxylase gene causes hereditary combined vitamin k-dependent coagulation factor deficiency\";s:8:\"\u0000*\u0000place\";s:14:\"Washington, DC\";s:6:\"\u0000*\u0000pub\";s:35:\"The Americain Society of Hematology\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:1:\"7\";s:9:\"\u0000*\u0000series\";s:0:\"\";s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";b:1;}"
arXiv access
