Novel mutation in ABCC6 gene in a Japanese pedigree with pseudoxanthoma elasticum and retinitis pigmentosa
- Author
- YOSHIDA, S1 ; HONDA, M1 ; YOSHIDA, A1 ; NAKAO, S1 ; GOTO, Y2 ; NAKAMURA, T1 ; FUJISAWA, K1 ; ISHIBASHI, T1
[1] Department of Ophthalmology, Kyushu University, Graduate School of Medicine, Fukuoka, Japan
[2] Clinical Neurophysiology, Kyushu University Graduate School of Medicine, Fukuoka, Japan - Source
Eye (London. 1987). 2005, Vol 19, Num 2, pp 215-217, 3 p ; ref : 5 ref
- CODEN
- EYEEEC
- ISSN
- 0950-222X
- Scientific domain
- Ophthalmology
- Publisher
- Nature Publishing Group, Basingstoke
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Author keyword
- ATP-binding cassette transporter angioid streaks molecular genetic analysis pseudoxanthoma elasticum retinitis pigmentosa
- Keyword (fr)
- Analyse Etude familiale Gène Génétique Japonais Mutation Ophtalmologie Pedigree Pseudoxanthome élastique Rétinite pigmentaire Strie angioïde Transporteur ABC Japon Maladie héréditaire Oeil pathologie Peau pathologie Rétinopathie Tissu élastique pathologie Asie
- Keyword (en)
- Analysis Family study Gene Genetics Japanese Mutation Ophthalmology Pedigree Pseudoxanthoma elasticum Retinitis pigmentosa Angioid streck ABC transporter Japan Genetic disease Eye disease Skin disease Retinopathy Elastic tissue disease Asia
- Keyword (es)
- Análisis Estudio familiar Gen Genética Japonés Mutación Oftalmología Pedigrí Seudoxantoma elástico Retinitis pigmentaria Estría angioide Transportador ABC Japón Enfermedad hereditaria Ojo patología Piel patología Retinopatía Tejido elástico patología Asia
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B07 Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B09 Ophthalmology / 002B09I Retinopathies
- Discipline
- Ophthalmology Sarcoidosis. Granulomatosis of undetermined origin. Connective tissue diseases. Vasculitides
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 16476358
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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DOI
10.1038/sj.eye.6701449 
https://dx.doi.org/10.1038/sj.eye.6701449
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