Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and stargardt disease: evidence of clinical heterogeneity at this locus
- Author
- ROZET, J.-M1 ; GERBER, S1 ; GHAZI, I2 ; PERRAULT, I1 ; DUCROQ, D1 ; SOUIED, E1 ; CABOT, A1 ; DUFIER, J.-L2 ; MUNNICH, A1 ; KAPLAN, J1
[1] Unité de Recherches sur les Handicaps Génétiques de l'Enfant INSERM U-393 and Département de Génétique, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75743 Paris, France
[2] Service d'Ophtalmologie, Hôpital Laënnec, Paris, France - Source
Journal of medical genetics. 1999, Vol 36, Num 6, pp 447-451 ; ref : 18 ref
- Publisher
- BMJ, London
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Allèle Chromosome A1 Dégénérescence choriorétinienne héréditaire Stargardt Déterminisme génétique Etude familiale Gène Homme Mutation Pathogénie Rétinite pigmentaire Transcription Transporteur ABC Maladie héréditaire Oeil pathologie Rétinopathie
- Keyword (en)
- Allele Chromosome A1 Stargardt chorioretinal degeneration Genetic determinism Family study Gene Human Mutation Pathogenesis Retinitis pigmentosa Transcription ABC transporter Genetic disease Eye disease Retinopathy
- Keyword (es)
- Alelo Cromosoma A1 Degeneración coriorretiniana hereditaria Stargardt Determinismo genético Estudio familiar Gen Hombre Mutación Patogenia Retinitis pigmentaria Transcripción Transportador ABC Enfermedad hereditaria Ojo patología Retinopatía
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B09 Ophthalmology / 002B09I Retinopathies
- Discipline
- Ophthalmology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 1857897
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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