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Stickler syndrome and vitreoretinal degeneration : correlation between locus mutation and vitreous phenotype. Apropos of a case

Author
PARENTIN, Fulvio1 ; SANGALLI, Antonella2 ; MOTTES, Monica2 ; PERISSUTTI, Paolo1
[1] Department of Ophthalmology, Children's Hospital I.R.C.C.S., Burlo Garofolo, Via dell'Istria, 65, 34100 Trieste, Italy
[2] Department of Maternal and Neonatal Biology and Genetics, Section of Biology and Genetics, University of Verona, Italy
Source

Graefe's archive for clinical and experimental ophthalmology. 2001, Vol 239, Num 4, pp 316-319 ; ref : 11 ref

CODEN
GACODL
ISSN
0721-832X
Scientific domain
Ophthalmology
Publisher
Springer, Berlin
Publication country
Germany
Document type
Article
Language
English
Keyword (fr)
Analyse ségrégation Dégénérescence Déterminisme génétique Etude cas Etude familiale Gène Homme Mutation Phénotype Stickler syndrome Vitréorétinien Maladie héréditaire Oeil pathologie Ostéochondrodysplasie Rétinopathie Système ostéoarticulaire pathologie
Keyword (en)
Segregation analysis Degeneration Genetic determinism Case study Family study Gene Human Mutation Phenotype Stickler syndrome Vitreoretinal Genetic disease Eye disease Osteochondrodysplasia Retinopathy Diseases of the osteoarticular system
Keyword (es)
Análisis segregación Degeneración Determinismo genético Estudio caso Estudio familiar Gen Hombre Mutación Fenotipo Stickler síndrome Vitreorretiniano Enfermedad hereditaria Ojo patología Osteocondrodisplasia Retinopatía Sistema osteoarticular patología
Classification
Pascal
002 Biological and medical sciences / 002B Medical sciences / 002B09 Ophthalmology / 002B09I Retinopathies

Discipline
Ophthalmology
Origin
Inist-CNRS
Database
PASCAL
INIST identifier
14133611

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

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