Duchenne/Becker muscular dystrophy: correlation of phenotype by electroretinography with sites of dystrophin mutations
- Author
- PILLERS, D.-A. M1 2 ; FITZGERALD, K. M3 4 ; WELEBER, R. G11 2 ; DUNCAN, N. M1 ; RASH, S. M1 ; WHITE, R. A3 5 ; DWINNELL, S. J2 ; POWELL, B. R6 ; SCHNUR, R. E7 ; RAY, P. N8 ; CIBIS, G. W10 4 9
[1] Department of Pediatrics, NRC-5, Oregon Child Health Research Center, Doernbecher Children's Hospital, Oregon Health Sciences University, 3181 SW Sam Jackson Park Rd., Portland, OR 97201-3042, United States
[2] Department of Molecular and Medical Genetics, Oregon Health Sciences University, Portland, Ore., United States
[3] Section of Genetics, University of Missouri School of Medicine, Kansas City, Mo., United States
[4] Vision Sciences Laboratory, University of Missouri School of Medicine, Kansas City, Mo., United States
[5] Molecular Biology Laboratory, The Children's Mercy Hospital, University of Missouri School of Medicine, Kansas City, Mo., United States
[6] Kapiolani Medical Center for Women and Children, Honolulu, Hawaii, United States
[7] The Children's Regional Hospital, Cooper Hospital/University of Medicine and Dentistry of New Jersey, Camden, N.J., United States
[8] Departments of Genetics, Research Institute and Pediatric Laboratory Medicine, Hospital for Sick Children, and the Department of Molecular and Medical Genetics, University of Toronto, Ontario, Canada
[9] Section of Ophthalmology, University of Missouri School of Medicine, Kansas City, Mo., United States
[10] The Eye Foundation of Kansas City, University of Missouri School of Medicine, Kansas City, Mo., United States
[11] Department of Ophthalmology, The Casey Eye Institute, Oregon Health Sciences University, Portland, Ore., United States - Source
Human genetics. 1999, Vol 105, Num 1-2, pp 2-9 ; ref : 1 p.1/4
- CODEN
- HUGEDQ
- ISSN
- 0340-6717
- Scientific domain
- Biotechnology; Genetics
- Publisher
- Springer, Berlin
/
Springer, Heidelberg
/
Springer, New York, NY
- Publication country
- Germany
- Document type
- Article
- Language
- English
- Keyword (fr)
- Dystrophie musculaire progressive Becker Dystrophie musculaire progressive Duchenne Dystrophine Electrorétinographie Forme moléculaire Génotype Génétique Homme Mutation Phénotype Relation phénotype génotype Maladie héréditaire Neuromusculaire pathologie Système nerveux pathologie
- Keyword (en)
- Becker muscular dystrophy Duchenne muscular dystrophy Dystrophin Electroretinography Molecular form Genotype Genetics Human Mutation Phenotype Genetic disease Neuromuscular diseases Nervous system diseases
- Keyword (es)
- Distrofia muscular progresiva Becker Distrofia muscular progresiva Duchenne Distrofina Electrorretinografía Forma molecular Genotipo Genética Hombre Mutación Fenotipo Enfermedad hereditaria Neuromuscular patología Sistema nervioso patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B17 Neurology / 002B17H Diseases of striated muscles. Neuromuscular diseases
- Discipline
- Neurology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 1914469
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
10.1007/s004399900111 
https://dx.doi.org/10.1007/s004399900111
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