Osteogenesis imperfecta type I is commonly due to a COL1A1 null allele of type I collagen
- Author
- WILLING, M. C1 ; PRUCHNO, C. J; ATKINSON, M; BYERS, P. H
[1] Univ. Iowa, dep. pediatrics, Iowa City IA 52242, United States - Source
American journal of human genetics. 1992, Vol 51, Num 3, pp 508-515 ; ref : 1 p
- Publisher
- University of Chicago Press, Chicago, IL
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Allèle silencieux Biologie moléculaire Collagène Homme Mutation Ostéogenèse imparfaite Séquence nucléotide Maladie héréditaire Ostéochondrodysplasie Système ostéoarticulaire pathologie
- Keyword (en)
- Silent allele Molecular biology Collagen Human Mutation Osteogenesis imperfecta Nucleotide sequence Genetic disease Osteochondrodysplasia Diseases of the osteoarticular system
- Keyword (es)
- Alelo silencioso Biología molecular Colágeno Hombre Mutación Osteogénesis imperfecta Secuencia nucleótido Enfermedad hereditaria Osteocondrodisplasia Sistema osteoarticular patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B15 Diseases of the osteoarticular system / 002B15H Malformations and congenital and or hereditary diseases involving bones. Joint deformations
- Discipline
- Osteoarticular pathology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 5532699
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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