Acute intermittent porphyria in Sweden. Molecular, functional and clinical consequences of some new mutations found in the porphobilinogen deaminase gene
- Auteur
- FLODERUS, Y1 ; SHOOLINGIN-JORDAN, P. M2 ; HARPER, P1
[1] Porphyria Centre, Huddinge University Hospital, Stockholm, Sweden
[2] Biochemistry and Molecular Biology, School of Biological Sciences, University of Southampton, Southampton, United Kingdom - Source
Clinical genetics. 2002, Vol 62, Num 4, pp 288-297 ; ref : 51 ref
- Editeur
- Blackwell, Oxford
- Pays de publication
- United Kingdom
- Type de document
- Article
- Langue
- English
- Mot clé auteur
- acute intermittent porphyria mutation porphobilinogen deaminase structure function relationships
- Mot clé (fr)
- Activité enzymatique Aigu Déterminisme génétique Exploration Gène Homme Hydroxymethylbilane synthase Intermittent Mutation Pathogénie Porphyrie Porphyrine Ammonia-lyases Appareil digestif pathologie Carbon-nitrogen lyases Enzyme Lyases Maladie héréditaire Métabolisme pathologie Photosensibilité Système nerveux pathologie
- Mot clé (en)
- Enzymatic activity Acute Genetic determinism Exploration Gene Human Hydroxymethylbilane synthase Intermittent Mutation Pathogenesis Porphyria Porphyrin Ammonia-lyases Digestive diseases Carbon-nitrogen lyases Enzyme Lyases Genetic disease Metabolic diseases Photosensitivity Nervous system diseases
- Mot clé (es)
- Actividad enzimática Agudo Determinismo genético Exploración Gen Hombre Hydroxymethylbilane synthase Intermitente Mutación Patogenia Porfiria Porfirina Ammonia-lyases Aparato digestivo patología Carbon-nitrogen lyases Enzima Lyases Enfermedad hereditaria Metabolismo patología Fotosensibilidad Sistema nervioso patología
- Classification
- Pascal
- 002 Sciences biologiques et medicales / 002B Sciences medicales / 002B22 Maladies metaboliques / 002B22E Autres maladies métaboliques / 002B22E02 Pigments (porphyries, hyperbilirubinémies...)
- Discipline
- Metabolic diseases
- Provenance
- Inist-CNRS
- Base de données
- PASCAL
- Identifiant INIST
- 13962412
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
Accès au Document
Installer sur votre navigateur
DOI
10.1034/j.1399-0004.2002.620406.x 
https://dx.doi.org/10.1034/j.1399-0004.2002.620406.x
"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:33:\"10.1034\/j.1399-0004.2002.620406.x\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:153:\"Acute intermittent porphyria in Sweden. Molecular, functional and clinical consequences of some new mutations found in the porphobilinogen deaminase gene\";s:9:\"\u0000*\u0000jtitle\";s:17:\"Clinical genetics\";s:9:\"\u0000*\u0000stitle\";s:11:\"Clin. genet\";s:7:\"\u0000*\u0000date\";s:4:\"2002\";s:9:\"\u0000*\u0000volume\";s:2:\"62\";s:8:\"\u0000*\u0000issue\";s:1:\"4\";s:8:\"\u0000*\u0000spage\";s:3:\"288\";s:8:\"\u0000*\u0000epage\";s:3:\"297\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0009-9163\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:8:\"FLODERUS\";s:10:\"\u0000*\u0000aufirst\";s:1:\"Y\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:2:{i:0;s:23:\"SHOOLINGIN-JORDAN, P. M\";i:1;s:9:\"HARPER, P\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:6:\"CLGNAY\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:153:\"Acute intermittent porphyria in Sweden. Molecular, functional and clinical consequences of some new mutations found in the porphobilinogen deaminase gene\";s:8:\"\u0000*\u0000place\";s:6:\"Oxford\";s:6:\"\u0000*\u0000pub\";s:9:\"Blackwell\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:0:\"\";s:9:\"\u0000*\u0000series\";s:0:\"\";s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";b:1;}"
Accès par Panist
"O:12:\"IstexOpenUrl\":35:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000fmt\";s:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:33:\"10.1034\/j.1399-0004.2002.620406.x\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:153:\"Acute intermittent porphyria in Sweden. Molecular, functional and clinical consequences of some new mutations found in the porphobilinogen deaminase gene\";s:9:\"\u0000*\u0000jtitle\";s:17:\"Clinical genetics\";s:9:\"\u0000*\u0000stitle\";s:11:\"Clin. genet\";s:7:\"\u0000*\u0000date\";s:4:\"2002\";s:9:\"\u0000*\u0000volume\";s:2:\"62\";s:8:\"\u0000*\u0000issue\";s:1:\"4\";s:8:\"\u0000*\u0000spage\";s:3:\"288\";s:8:\"\u0000*\u0000epage\";s:3:\"297\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0009-9163\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:8:\"FLODERUS\";s:10:\"\u0000*\u0000aufirst\";s:1:\"Y\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:2:{i:0;s:23:\"SHOOLINGIN-JORDAN, P. M\";i:1;s:9:\"HARPER, P\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:6:\"CLGNAY\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:153:\"Acute intermittent porphyria in Sweden. Molecular, functional and clinical consequences of some new mutations found in the porphobilinogen deaminase gene\";s:8:\"\u0000*\u0000place\";s:6:\"Oxford\";s:6:\"\u0000*\u0000pub\";s:9:\"Blackwell\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:0:\"\";s:9:\"\u0000*\u0000series\";s:0:\"\";s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";b:1;}"
Accès par Istex
"O:16:\"UnpaywallOpenUrl\":35:{s:8:\"\u0000*\u0000email\";s:27:\"assistance-portail@inist.fr\";s:6:\"\u0000*\u0000fmt\";N;s:6:\"\u0000*\u0000doi\";s:33:\"10.1034\/j.1399-0004.2002.620406.x\";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;}"
Accès par Unpaywall
"O:16:\"EuropePMCOpenUrl\":35:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000fmt\";s:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:33:\"10.1034\/j.1399-0004.2002.620406.x\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:153:\"Acute intermittent porphyria in Sweden. Molecular, functional and clinical consequences of some new mutations found in the porphobilinogen deaminase gene\";s:9:\"\u0000*\u0000jtitle\";s:17:\"Clinical genetics\";s:9:\"\u0000*\u0000stitle\";s:11:\"Clin. genet\";s:7:\"\u0000*\u0000date\";s:4:\"2002\";s:9:\"\u0000*\u0000volume\";s:2:\"62\";s:8:\"\u0000*\u0000issue\";s:1:\"4\";s:8:\"\u0000*\u0000spage\";s:3:\"288\";s:8:\"\u0000*\u0000epage\";s:3:\"297\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0009-9163\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:8:\"FLODERUS\";s:10:\"\u0000*\u0000aufirst\";s:1:\"Y\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:2:{i:0;s:23:\"SHOOLINGIN-JORDAN, P. M\";i:1;s:9:\"HARPER, P\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:6:\"CLGNAY\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:153:\"Acute intermittent porphyria in Sweden. Molecular, functional and clinical consequences of some new mutations found in the porphobilinogen deaminase gene\";s:8:\"\u0000*\u0000place\";s:6:\"Oxford\";s:6:\"\u0000*\u0000pub\";s:9:\"Blackwell\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:0:\"\";s:9:\"\u0000*\u0000series\";s:0:\"\";s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";b:1;}"
Accès par Europe PubMed Central
"O:11:\"BaseOpenUrl\":35:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000fmt\";s:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:33:\"10.1034\/j.1399-0004.2002.620406.x\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:153:\"Acute intermittent porphyria in Sweden. Molecular, functional and clinical consequences of some new mutations found in the porphobilinogen deaminase gene\";s:9:\"\u0000*\u0000jtitle\";s:17:\"Clinical genetics\";s:9:\"\u0000*\u0000stitle\";s:11:\"Clin. genet\";s:7:\"\u0000*\u0000date\";s:4:\"2002\";s:9:\"\u0000*\u0000volume\";s:2:\"62\";s:8:\"\u0000*\u0000issue\";s:1:\"4\";s:8:\"\u0000*\u0000spage\";s:3:\"288\";s:8:\"\u0000*\u0000epage\";s:3:\"297\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0009-9163\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:8:\"FLODERUS\";s:10:\"\u0000*\u0000aufirst\";s:1:\"Y\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:2:{i:0;s:23:\"SHOOLINGIN-JORDAN, P. M\";i:1;s:9:\"HARPER, P\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:6:\"CLGNAY\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:153:\"Acute intermittent porphyria in Sweden. Molecular, functional and clinical consequences of some new mutations found in the porphobilinogen deaminase gene\";s:8:\"\u0000*\u0000place\";s:6:\"Oxford\";s:6:\"\u0000*\u0000pub\";s:9:\"Blackwell\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:0:\"\";s:9:\"\u0000*\u0000series\";s:0:\"\";s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";b:1;}"
Accès par Base Search
"O:12:\"ArXivOpenUrl\":35:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000fmt\";s:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:33:\"10.1034\/j.1399-0004.2002.620406.x\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:153:\"Acute intermittent porphyria in Sweden. Molecular, functional and clinical consequences of some new mutations found in the porphobilinogen deaminase gene\";s:9:\"\u0000*\u0000jtitle\";s:17:\"Clinical genetics\";s:9:\"\u0000*\u0000stitle\";s:11:\"Clin. genet\";s:7:\"\u0000*\u0000date\";s:4:\"2002\";s:9:\"\u0000*\u0000volume\";s:2:\"62\";s:8:\"\u0000*\u0000issue\";s:1:\"4\";s:8:\"\u0000*\u0000spage\";s:3:\"288\";s:8:\"\u0000*\u0000epage\";s:3:\"297\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0009-9163\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:8:\"FLODERUS\";s:10:\"\u0000*\u0000aufirst\";s:1:\"Y\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:2:{i:0;s:23:\"SHOOLINGIN-JORDAN, P. M\";i:1;s:9:\"HARPER, P\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:6:\"CLGNAY\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:153:\"Acute intermittent porphyria in Sweden. Molecular, functional and clinical consequences of some new mutations found in the porphobilinogen deaminase gene\";s:8:\"\u0000*\u0000place\";s:6:\"Oxford\";s:6:\"\u0000*\u0000pub\";s:9:\"Blackwell\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:0:\"\";s:9:\"\u0000*\u0000series\";s:0:\"\";s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";b:1;}"
Accès par arXiv
