Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder
- Author
- KATSANIS, Nicholas1 ; ANSLEY, Stephen J1 ; BADANO, Jose L1 ; EICHERS, Erica R1 ; LEWIS, Richard Alan1 2 3 4 5 ; HOSKINS, Bethan E6 ; SCAMBLER, Peter J6 ; DAVIDSON, William S7 ; BEALES, Philip L6 ; LUPSKI, James R1 3 5
[1] Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, United States
[2] Department of Ophthalmology, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, United States
[3] Department of Pediatrics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, United States
[4] Department of Medicine, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, United States
[5] The Texas Children's Hospital, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, United States
[6] Molecular Medicine Unit, Institute of Child Health, University College London, London WC1N 1EH, United Kingdom
[7] Department of Molecular Biology and Biochemistry, Simon Fraser University, Burnaby, British Columbia, VSA 1S6, Canada - Source
Science (Washington, D.C.). 2001, Vol 293, Num 5538, pp 2256-2259
- CODEN
- SCIEAS
- ISSN
- 0036-8075
- Scientific domain
- Multidisciplinary
- Publisher
- American Association for the Advancement of Science, Washington, DC
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Caractère récessif Déterminisme génétique Etude familiale Homme Maladie héréditaire Mutation Obésité Polydactylie Rein pathologie Rétinopathie pigmentaire Syndrome complexe Trouble développement Bardet Biedl syndrome Appareil urinaire pathologie Dysostose Génétique Maladie congénitale Malformation Oeil pathologie Système ostéoarticulaire pathologie
- Keyword (en)
- Recessive character Genetic determinism Family study Human Genetic disease Mutation Obesity Polydactyly Kidney disease Retinopathy pigmentosa Complex syndrome Developmental disorder Bardet Biedl syndrome Urinary system disease Dysostosis Genetics Congenital disease Malformation Eye disease Diseases of the osteoarticular system
- Keyword (es)
- Carácter recesivo Determinismo genético Estudio familiar Hombre Enfermedad hereditaria Mutación Obesidad Polidactilia Riñón patología Retinopatía pigmentaria Síndrome complejo Trastorno desarrollo Aparato urinario patología Disostosis Genética Enfermedad congénita Malformación Ojo patología Sistema osteoarticular patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23E Complex syndromes
- Discipline
- Medical genetics
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 14130871
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
10.1126/science.1063525 
https://dx.doi.org/10.1126/science.1063525
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