A novel mutation in the FOXC1 gene in a family with Axenfeld-Rieger syndrome and Peters' anomaly
- Author
- WEISSCHUH, N1 ; WOLF, C1 ; WISSINGER, B1 ; GRAMER, E2
[1] Molecular Genetics Laboratory, Institute for Ophthalmic Research, University Clinics Tuebingen, Tuebingen, Germany
[2] University Eye Hospital, Wuerzburg, Germany - Source
Clinical genetics. 2008, Vol 74, Num 5, pp 476-480, 5 p ; ref : 31 ref
- Publisher
- Blackwell, Oxford
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Author keyword
- Axenfeld-Rieger syndrome FOXC1 Peters' anomaly mutation screening
- Keyword (fr)
- Criblage Dépistage Etude familiale Gène Génétique Homme Milieu familial Mutation Syndrome d'Axenfeld Syndrome de Peters Maladie congénitale Malformation Pathologie de l'oeil
- Keyword (en)
- Screening Medical screening Family study Gene Genetics Human Family environment Mutation Axenfeld syndrome Peters syndrome Congenital disease Malformation Eye disease
- Keyword (es)
- Cernido Descubrimiento Estudio familiar Gen Genética Hombre Medio familiar Mutación Axenfeld síndrome Peters síndrome Enfermedad congénita Malformación Ojo 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 / 002B09 Ophthalmology / 002B09A Malformations of the eye
- 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 Molecular and cell biology Ophthalmology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 20755179
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
10.1111/j.1399-0004.2008.01025.x 
https://dx.doi.org/10.1111/j.1399-0004.2008.01025.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:32:\"10.1111\/j.1399-0004.2008.01025.x\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:96:\"A novel mutation in the FOXC1 gene in a family with Axenfeld-Rieger syndrome and Peters' anomaly\";s:9:\"\u0000*\u0000jtitle\";s:17:\"Clinical genetics\";s:9:\"\u0000*\u0000stitle\";s:11:\"Clin. genet\";s:7:\"\u0000*\u0000date\";s:4:\"2008\";s:9:\"\u0000*\u0000volume\";s:2:\"74\";s:8:\"\u0000*\u0000issue\";s:1:\"5\";s:8:\"\u0000*\u0000spage\";s:3:\"476\";s:8:\"\u0000*\u0000epage\";s:3:\"480\";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:9:\"WEISSCHUH\";s:10:\"\u0000*\u0000aufirst\";s:1:\"N\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:3:{i:0;s:7:\"WOLF, C\";i:1;s:12:\"WISSINGER, B\";i:2;s:9:\"GRAMER, E\";}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:96:\"A novel mutation in the FOXC1 gene in a family with Axenfeld-Rieger syndrome and Peters' anomaly\";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:1:\"5\";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:32:\"10.1111\/j.1399-0004.2008.01025.x\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:96:\"A novel mutation in the FOXC1 gene in a family with Axenfeld-Rieger syndrome and Peters' anomaly\";s:9:\"\u0000*\u0000jtitle\";s:17:\"Clinical genetics\";s:9:\"\u0000*\u0000stitle\";s:11:\"Clin. genet\";s:7:\"\u0000*\u0000date\";s:4:\"2008\";s:9:\"\u0000*\u0000volume\";s:2:\"74\";s:8:\"\u0000*\u0000issue\";s:1:\"5\";s:8:\"\u0000*\u0000spage\";s:3:\"476\";s:8:\"\u0000*\u0000epage\";s:3:\"480\";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:9:\"WEISSCHUH\";s:10:\"\u0000*\u0000aufirst\";s:1:\"N\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:3:{i:0;s:7:\"WOLF, C\";i:1;s:12:\"WISSINGER, B\";i:2;s:9:\"GRAMER, E\";}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:96:\"A novel mutation in the FOXC1 gene in a family with Axenfeld-Rieger syndrome and Peters' anomaly\";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:1:\"5\";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:32:\"10.1111\/j.1399-0004.2008.01025.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;}"
Unpaywall access
"O:16:\"EuropePMCOpenUrl\":35:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000fmt\";s:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:32:\"10.1111\/j.1399-0004.2008.01025.x\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:96:\"A novel mutation in the FOXC1 gene in a family with Axenfeld-Rieger syndrome and Peters' anomaly\";s:9:\"\u0000*\u0000jtitle\";s:17:\"Clinical genetics\";s:9:\"\u0000*\u0000stitle\";s:11:\"Clin. genet\";s:7:\"\u0000*\u0000date\";s:4:\"2008\";s:9:\"\u0000*\u0000volume\";s:2:\"74\";s:8:\"\u0000*\u0000issue\";s:1:\"5\";s:8:\"\u0000*\u0000spage\";s:3:\"476\";s:8:\"\u0000*\u0000epage\";s:3:\"480\";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:9:\"WEISSCHUH\";s:10:\"\u0000*\u0000aufirst\";s:1:\"N\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:3:{i:0;s:7:\"WOLF, C\";i:1;s:12:\"WISSINGER, B\";i:2;s:9:\"GRAMER, E\";}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:96:\"A novel mutation in the FOXC1 gene in a family with Axenfeld-Rieger syndrome and Peters' anomaly\";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:1:\"5\";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:32:\"10.1111\/j.1399-0004.2008.01025.x\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:96:\"A novel mutation in the FOXC1 gene in a family with Axenfeld-Rieger syndrome and Peters' anomaly\";s:9:\"\u0000*\u0000jtitle\";s:17:\"Clinical genetics\";s:9:\"\u0000*\u0000stitle\";s:11:\"Clin. genet\";s:7:\"\u0000*\u0000date\";s:4:\"2008\";s:9:\"\u0000*\u0000volume\";s:2:\"74\";s:8:\"\u0000*\u0000issue\";s:1:\"5\";s:8:\"\u0000*\u0000spage\";s:3:\"476\";s:8:\"\u0000*\u0000epage\";s:3:\"480\";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:9:\"WEISSCHUH\";s:10:\"\u0000*\u0000aufirst\";s:1:\"N\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:3:{i:0;s:7:\"WOLF, C\";i:1;s:12:\"WISSINGER, B\";i:2;s:9:\"GRAMER, E\";}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:96:\"A novel mutation in the FOXC1 gene in a family with Axenfeld-Rieger syndrome and Peters' anomaly\";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:1:\"5\";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:32:\"10.1111\/j.1399-0004.2008.01025.x\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:96:\"A novel mutation in the FOXC1 gene in a family with Axenfeld-Rieger syndrome and Peters' anomaly\";s:9:\"\u0000*\u0000jtitle\";s:17:\"Clinical genetics\";s:9:\"\u0000*\u0000stitle\";s:11:\"Clin. genet\";s:7:\"\u0000*\u0000date\";s:4:\"2008\";s:9:\"\u0000*\u0000volume\";s:2:\"74\";s:8:\"\u0000*\u0000issue\";s:1:\"5\";s:8:\"\u0000*\u0000spage\";s:3:\"476\";s:8:\"\u0000*\u0000epage\";s:3:\"480\";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:9:\"WEISSCHUH\";s:10:\"\u0000*\u0000aufirst\";s:1:\"N\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:3:{i:0;s:7:\"WOLF, C\";i:1;s:12:\"WISSINGER, B\";i:2;s:9:\"GRAMER, E\";}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:96:\"A novel mutation in the FOXC1 gene in a family with Axenfeld-Rieger syndrome and Peters' anomaly\";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:1:\"5\";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
