TGFBI gene mutation analysis in families with hereditary corneal dystrophies from Ukraine
- Author
- PAMPUKHA, V. M1 ; DROZHYNA, G. I2 ; LIVSHITS, L. A1
[1] Institute of Molecular Biology and Genetics, National Academy of Science of Ukraine, Kiev, Ukraine
[2] Filatov Institute of Eye Diseases and Tissue Therapy, Academy of Medical Science of Ukraine, Odessa, Ukraine - Source
Ophthalmologica (Basel). 2004, Vol 218, Num 6, pp 411-414, 4 p ; ref : 13 ref
- ISSN
- 0030-3755
- Scientific domain
- Ophthalmology
- Publisher
- Karger, Basel
/
Karger, Freiburg
/
Karger, Paris
- Publication country
- Switzerland
- Document type
- Article
- Language
- English
- Author keyword
- Corneal dystrophy Mutation analysis TGFBI gene
- Keyword (fr)
- Diagnostic Digestion Dystrophie cornéenne granulaire Dystrophie cornéenne grillagée Dystrophie cornéenne héréditaire Reis Bückler Dystrophie cornéenne Etude familiale Exon Gène Génétique Homme Héréditaire Mutation Précoce Risque élevé Réaction chaîne polymérase Ukraine Kératopathie Maladie héréditaire Oeil pathologie Segment antérieur pathologie Europe Est Europe
- Keyword (en)
- Diagnosis Digestion Granular corneal dystrophy Lattice corneal dystrophy Reis Buckler corneal dystrophy Corneal dystrophy Family study Exon Gene Genetics Human Hereditary Mutation Early High risk Polymerase chain reaction Ukraine Keratopathy Genetic disease Eye disease Anterior segment disease Eastern Europe Europe
- Keyword (es)
- Diagnóstico Digestión Distrofia corneal granular Distrofia corneal reticulada Distrofia corneal hereditaria Reis Buckler Distrofia corneal Estudio familiar Exón Gen Genética Hombre Hereditario Mutación Precoz Riesgo alto Reacción cadena polimerasa Ukrania Queratopatía Enfermedad hereditaria Ojo patología Segmento anterior patología Europa del Este Europa
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B09 Ophthalmology / 002B09E Diseases of cornea, anterior segment and sclera
- Discipline
- Ophthalmology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 16279736
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
10.1159/000080945 
https://dx.doi.org/10.1159/000080945
"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:17:\"10.1159\/000080945\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:89:\"TGFBI gene mutation analysis in families with hereditary corneal dystrophies from Ukraine\";s:9:\"\u0000*\u0000jtitle\";s:23:\"Ophthalmologica (Basel)\";s:9:\"\u0000*\u0000stitle\";s:23:\"Ophthalmologica (Basel)\";s:7:\"\u0000*\u0000date\";s:4:\"2004\";s:9:\"\u0000*\u0000volume\";s:3:\"218\";s:8:\"\u0000*\u0000issue\";s:1:\"6\";s:8:\"\u0000*\u0000spage\";s:3:\"411\";s:8:\"\u0000*\u0000epage\";s:3:\"414\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0030-3755\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:8:\"PAMPUKHA\";s:10:\"\u0000*\u0000aufirst\";s:4:\"V. M\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:2:{i:0;s:14:\"DROZHYNA, G. I\";i:1;s:14:\"LIVSHITS, L. A\";}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:89:\"TGFBI gene mutation analysis in families with hereditary corneal dystrophies from Ukraine\";s:8:\"\u0000*\u0000place\";s:5:\"Basel\";s:6:\"\u0000*\u0000pub\";s:6:\"Karger\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:1:\"4\";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:17:\"10.1159\/000080945\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:89:\"TGFBI gene mutation analysis in families with hereditary corneal dystrophies from Ukraine\";s:9:\"\u0000*\u0000jtitle\";s:23:\"Ophthalmologica (Basel)\";s:9:\"\u0000*\u0000stitle\";s:23:\"Ophthalmologica (Basel)\";s:7:\"\u0000*\u0000date\";s:4:\"2004\";s:9:\"\u0000*\u0000volume\";s:3:\"218\";s:8:\"\u0000*\u0000issue\";s:1:\"6\";s:8:\"\u0000*\u0000spage\";s:3:\"411\";s:8:\"\u0000*\u0000epage\";s:3:\"414\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0030-3755\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:8:\"PAMPUKHA\";s:10:\"\u0000*\u0000aufirst\";s:4:\"V. M\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:2:{i:0;s:14:\"DROZHYNA, G. I\";i:1;s:14:\"LIVSHITS, L. A\";}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:89:\"TGFBI gene mutation analysis in families with hereditary corneal dystrophies from Ukraine\";s:8:\"\u0000*\u0000place\";s:5:\"Basel\";s:6:\"\u0000*\u0000pub\";s:6:\"Karger\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:1:\"4\";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:17:\"10.1159\/000080945\";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:17:\"10.1159\/000080945\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:89:\"TGFBI gene mutation analysis in families with hereditary corneal dystrophies from Ukraine\";s:9:\"\u0000*\u0000jtitle\";s:23:\"Ophthalmologica (Basel)\";s:9:\"\u0000*\u0000stitle\";s:23:\"Ophthalmologica (Basel)\";s:7:\"\u0000*\u0000date\";s:4:\"2004\";s:9:\"\u0000*\u0000volume\";s:3:\"218\";s:8:\"\u0000*\u0000issue\";s:1:\"6\";s:8:\"\u0000*\u0000spage\";s:3:\"411\";s:8:\"\u0000*\u0000epage\";s:3:\"414\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0030-3755\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:8:\"PAMPUKHA\";s:10:\"\u0000*\u0000aufirst\";s:4:\"V. M\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:2:{i:0;s:14:\"DROZHYNA, G. I\";i:1;s:14:\"LIVSHITS, L. A\";}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:89:\"TGFBI gene mutation analysis in families with hereditary corneal dystrophies from Ukraine\";s:8:\"\u0000*\u0000place\";s:5:\"Basel\";s:6:\"\u0000*\u0000pub\";s:6:\"Karger\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:1:\"4\";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:17:\"10.1159\/000080945\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:89:\"TGFBI gene mutation analysis in families with hereditary corneal dystrophies from Ukraine\";s:9:\"\u0000*\u0000jtitle\";s:23:\"Ophthalmologica (Basel)\";s:9:\"\u0000*\u0000stitle\";s:23:\"Ophthalmologica (Basel)\";s:7:\"\u0000*\u0000date\";s:4:\"2004\";s:9:\"\u0000*\u0000volume\";s:3:\"218\";s:8:\"\u0000*\u0000issue\";s:1:\"6\";s:8:\"\u0000*\u0000spage\";s:3:\"411\";s:8:\"\u0000*\u0000epage\";s:3:\"414\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0030-3755\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:8:\"PAMPUKHA\";s:10:\"\u0000*\u0000aufirst\";s:4:\"V. M\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:2:{i:0;s:14:\"DROZHYNA, G. I\";i:1;s:14:\"LIVSHITS, L. A\";}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:89:\"TGFBI gene mutation analysis in families with hereditary corneal dystrophies from Ukraine\";s:8:\"\u0000*\u0000place\";s:5:\"Basel\";s:6:\"\u0000*\u0000pub\";s:6:\"Karger\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:1:\"4\";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:17:\"10.1159\/000080945\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:89:\"TGFBI gene mutation analysis in families with hereditary corneal dystrophies from Ukraine\";s:9:\"\u0000*\u0000jtitle\";s:23:\"Ophthalmologica (Basel)\";s:9:\"\u0000*\u0000stitle\";s:23:\"Ophthalmologica (Basel)\";s:7:\"\u0000*\u0000date\";s:4:\"2004\";s:9:\"\u0000*\u0000volume\";s:3:\"218\";s:8:\"\u0000*\u0000issue\";s:1:\"6\";s:8:\"\u0000*\u0000spage\";s:3:\"411\";s:8:\"\u0000*\u0000epage\";s:3:\"414\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0030-3755\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:8:\"PAMPUKHA\";s:10:\"\u0000*\u0000aufirst\";s:4:\"V. M\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:2:{i:0;s:14:\"DROZHYNA, G. I\";i:1;s:14:\"LIVSHITS, L. A\";}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:89:\"TGFBI gene mutation analysis in families with hereditary corneal dystrophies from Ukraine\";s:8:\"\u0000*\u0000place\";s:5:\"Basel\";s:6:\"\u0000*\u0000pub\";s:6:\"Karger\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:1:\"4\";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
