A PCSK9 variant and familial combined hyperlipidaemia
- Author
- ABIFADEL, M1 2 3 4 ; BERNIER, L5 ; ERLICH, D1 2 3 ; VARRET, M1 2 3 ; ROY, M5 ; DAVIGNON, J5 ; BOILEAU, C1 2 3 7 8 ; DUBUC, G5 ; NUEL, G6 ; RABES, J. P1 2 3 7 8 ; BONNEAU, J1 2 3 ; MARQUES, A1 2 3 ; MARDUEL, M1 2 3 ; DEVILLERS, M1 2 3 ; MUNNICH, A1 2 3
[1] Inserm, U781, Paris, France
[2] APHP, hôpital Necker-Enfants malades, Paris, France
[3] Faculté de médecine, Université Paris Descartes, Paris, France
[4] Faculté de pharmacie, Université Saint-Joseph, Beirut, Lebanon
[5] Institut de recherches cliniques, Montreal, Quebec, Canada
[6] MAP5, CNRS 8145, Université Paris Descartes, France
[7] Laboratoire de biochimie et de génétique moléculaire, hôpital Ambroise-Paré, APHP, France
[8] Université Versailles-Saint-Quentin-en-Yvelines, UFR médicale Paris-Ile-de-France Ouest, France - Source
Journal of medical genetics. 2008, Vol 45, Num 12, pp 780-786, 7 p ; ref : 30 ref
- Publisher
- BMJ Publishing Group, London
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Etude familiale Génétique Homme Hyperlipémie Lipide Variant Dyslipémie Maladie métabolique
- Keyword (en)
- Family study Genetics Human Hyperlipemia Lipids Variant Dyslipemia Metabolic diseases
- Keyword (es)
- Estudio familiar Genética Hombre Hiperlipemia Lípido Variante Dislipemia Metabolismo patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A04 Molecular and cellular biology
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A07 Genetics of eukaryotes. Biological and molecular evolution
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B22 Metabolic diseases / 002B22A Disorders of blood lipids. Hyperlipoproteinemia
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23A General aspects. Genetic counseling
- Discipline
- Eukaryotes genetics. Biological and molecular evolution Medical genetics Metabolic diseases Molecular and cell biology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 20883726
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
10.1136/jmg.2008.059980 
https://dx.doi.org/10.1136/jmg.2008.059980
"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:23:\"10.1136\/jmg.2008.059980\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:53:\"A PCSK9 variant and familial combined hyperlipidaemia\";s:9:\"\u0000*\u0000jtitle\";s:27:\"Journal of medical genetics\";s:9:\"\u0000*\u0000stitle\";s:13:\"J. med. genet\";s:7:\"\u0000*\u0000date\";s:4:\"2008\";s:9:\"\u0000*\u0000volume\";s:2:\"45\";s:8:\"\u0000*\u0000issue\";s:2:\"12\";s:8:\"\u0000*\u0000spage\";s:3:\"780\";s:8:\"\u0000*\u0000epage\";s:3:\"786\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0022-2593\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:8:\"ABIFADEL\";s:10:\"\u0000*\u0000aufirst\";s:1:\"M\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:14:{i:0;s:10:\"BERNIER, L\";i:1;s:9:\"ERLICH, D\";i:2;s:9:\"VARRET, M\";i:3;s:6:\"ROY, M\";i:4;s:11:\"DAVIGNON, J\";i:5;s:10:\"BOILEAU, C\";i:6;s:8:\"DUBUC, G\";i:7;s:7:\"NUEL, G\";i:8;s:11:\"RABES, J. P\";i:9;s:10:\"BONNEAU, J\";i:10;s:10:\"MARQUES, A\";i:11;s:10:\"MARDUEL, M\";i:12;s:12:\"DEVILLERS, M\";i:13;s:10:\"MUNNICH, A\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:6:\"JMDGAE\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:53:\"A PCSK9 variant and familial combined hyperlipidaemia\";s:8:\"\u0000*\u0000place\";s:6:\"London\";s:6:\"\u0000*\u0000pub\";s:20:\"BMJ Publishing Group\";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:23:\"10.1136\/jmg.2008.059980\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:53:\"A PCSK9 variant and familial combined hyperlipidaemia\";s:9:\"\u0000*\u0000jtitle\";s:27:\"Journal of medical genetics\";s:9:\"\u0000*\u0000stitle\";s:13:\"J. med. genet\";s:7:\"\u0000*\u0000date\";s:4:\"2008\";s:9:\"\u0000*\u0000volume\";s:2:\"45\";s:8:\"\u0000*\u0000issue\";s:2:\"12\";s:8:\"\u0000*\u0000spage\";s:3:\"780\";s:8:\"\u0000*\u0000epage\";s:3:\"786\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0022-2593\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:8:\"ABIFADEL\";s:10:\"\u0000*\u0000aufirst\";s:1:\"M\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:14:{i:0;s:10:\"BERNIER, L\";i:1;s:9:\"ERLICH, D\";i:2;s:9:\"VARRET, M\";i:3;s:6:\"ROY, M\";i:4;s:11:\"DAVIGNON, J\";i:5;s:10:\"BOILEAU, C\";i:6;s:8:\"DUBUC, G\";i:7;s:7:\"NUEL, G\";i:8;s:11:\"RABES, J. P\";i:9;s:10:\"BONNEAU, J\";i:10;s:10:\"MARQUES, A\";i:11;s:10:\"MARDUEL, M\";i:12;s:12:\"DEVILLERS, M\";i:13;s:10:\"MUNNICH, A\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:6:\"JMDGAE\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:53:\"A PCSK9 variant and familial combined hyperlipidaemia\";s:8:\"\u0000*\u0000place\";s:6:\"London\";s:6:\"\u0000*\u0000pub\";s:20:\"BMJ Publishing Group\";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:23:\"10.1136\/jmg.2008.059980\";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:23:\"10.1136\/jmg.2008.059980\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:53:\"A PCSK9 variant and familial combined hyperlipidaemia\";s:9:\"\u0000*\u0000jtitle\";s:27:\"Journal of medical genetics\";s:9:\"\u0000*\u0000stitle\";s:13:\"J. med. genet\";s:7:\"\u0000*\u0000date\";s:4:\"2008\";s:9:\"\u0000*\u0000volume\";s:2:\"45\";s:8:\"\u0000*\u0000issue\";s:2:\"12\";s:8:\"\u0000*\u0000spage\";s:3:\"780\";s:8:\"\u0000*\u0000epage\";s:3:\"786\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0022-2593\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:8:\"ABIFADEL\";s:10:\"\u0000*\u0000aufirst\";s:1:\"M\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:14:{i:0;s:10:\"BERNIER, L\";i:1;s:9:\"ERLICH, D\";i:2;s:9:\"VARRET, M\";i:3;s:6:\"ROY, M\";i:4;s:11:\"DAVIGNON, J\";i:5;s:10:\"BOILEAU, C\";i:6;s:8:\"DUBUC, G\";i:7;s:7:\"NUEL, G\";i:8;s:11:\"RABES, J. P\";i:9;s:10:\"BONNEAU, J\";i:10;s:10:\"MARQUES, A\";i:11;s:10:\"MARDUEL, M\";i:12;s:12:\"DEVILLERS, M\";i:13;s:10:\"MUNNICH, A\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:6:\"JMDGAE\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:53:\"A PCSK9 variant and familial combined hyperlipidaemia\";s:8:\"\u0000*\u0000place\";s:6:\"London\";s:6:\"\u0000*\u0000pub\";s:20:\"BMJ Publishing Group\";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:23:\"10.1136\/jmg.2008.059980\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:53:\"A PCSK9 variant and familial combined hyperlipidaemia\";s:9:\"\u0000*\u0000jtitle\";s:27:\"Journal of medical genetics\";s:9:\"\u0000*\u0000stitle\";s:13:\"J. med. genet\";s:7:\"\u0000*\u0000date\";s:4:\"2008\";s:9:\"\u0000*\u0000volume\";s:2:\"45\";s:8:\"\u0000*\u0000issue\";s:2:\"12\";s:8:\"\u0000*\u0000spage\";s:3:\"780\";s:8:\"\u0000*\u0000epage\";s:3:\"786\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0022-2593\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:8:\"ABIFADEL\";s:10:\"\u0000*\u0000aufirst\";s:1:\"M\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:14:{i:0;s:10:\"BERNIER, L\";i:1;s:9:\"ERLICH, D\";i:2;s:9:\"VARRET, M\";i:3;s:6:\"ROY, M\";i:4;s:11:\"DAVIGNON, J\";i:5;s:10:\"BOILEAU, C\";i:6;s:8:\"DUBUC, G\";i:7;s:7:\"NUEL, G\";i:8;s:11:\"RABES, J. P\";i:9;s:10:\"BONNEAU, J\";i:10;s:10:\"MARQUES, A\";i:11;s:10:\"MARDUEL, M\";i:12;s:12:\"DEVILLERS, M\";i:13;s:10:\"MUNNICH, A\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:6:\"JMDGAE\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:53:\"A PCSK9 variant and familial combined hyperlipidaemia\";s:8:\"\u0000*\u0000place\";s:6:\"London\";s:6:\"\u0000*\u0000pub\";s:20:\"BMJ Publishing Group\";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:23:\"10.1136\/jmg.2008.059980\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:53:\"A PCSK9 variant and familial combined hyperlipidaemia\";s:9:\"\u0000*\u0000jtitle\";s:27:\"Journal of medical genetics\";s:9:\"\u0000*\u0000stitle\";s:13:\"J. med. genet\";s:7:\"\u0000*\u0000date\";s:4:\"2008\";s:9:\"\u0000*\u0000volume\";s:2:\"45\";s:8:\"\u0000*\u0000issue\";s:2:\"12\";s:8:\"\u0000*\u0000spage\";s:3:\"780\";s:8:\"\u0000*\u0000epage\";s:3:\"786\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0022-2593\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:8:\"ABIFADEL\";s:10:\"\u0000*\u0000aufirst\";s:1:\"M\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:14:{i:0;s:10:\"BERNIER, L\";i:1;s:9:\"ERLICH, D\";i:2;s:9:\"VARRET, M\";i:3;s:6:\"ROY, M\";i:4;s:11:\"DAVIGNON, J\";i:5;s:10:\"BOILEAU, C\";i:6;s:8:\"DUBUC, G\";i:7;s:7:\"NUEL, G\";i:8;s:11:\"RABES, J. P\";i:9;s:10:\"BONNEAU, J\";i:10;s:10:\"MARQUES, A\";i:11;s:10:\"MARDUEL, M\";i:12;s:12:\"DEVILLERS, M\";i:13;s:10:\"MUNNICH, A\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:6:\"JMDGAE\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:53:\"A PCSK9 variant and familial combined hyperlipidaemia\";s:8:\"\u0000*\u0000place\";s:6:\"London\";s:6:\"\u0000*\u0000pub\";s:20:\"BMJ Publishing Group\";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
