Novel amino acid substitution in the Y-position of collagen type II causes spondyloepimetaphyseal dysplasia congenita
- Author
- SULKO, J1 ; CZARNY-RATAJCZAK, M2 3 ; WOZNIAK, A3 ; LATOS-BIELENSKA, A3 ; KOZLOWSKI, K4
[1] Orthopaedic and Traumatology Division, Children's University Hospital, Cracow, Poland
[2] Center for Gene Therapy, Tulane University Health Sciences Center, New Orleans, Louisiana, United States
[3] Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland
[4] Department of Medical Imaging, New Children's Hospital, Sydney, Australia - Source
American journal of medical genetics. = Neuropsychiatric genetics. 2005, Vol 137A, Num 3, pp 292-297, 6 p ; ref : 21 ref
- Publisher
- Wiley-Liss, New York, NY
- Publication country
- United States
- Document type
- Article
- Language
- English
- Author keyword
- SEDC Spranger- Wiedemann SEMD Strudwick type Y-position of the Gly-X-Y triplet mutations in the COL2A1 gene spondyloepimetaphyseal dysplasia congenita
- Keyword (fr)
- Aminoacide Collagène Dysplasie Gène Génétique Homme Mutation Position Substitution Triplet
- Keyword (en)
- Aminoacid Collagen Dysplasia Gene Genetics Human Mutation Position Substitution Triplet
- Keyword (es)
- Aminoácido Colágeno Displasia Gen Genética Hombre Mutación Posición Substitución Triplete
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23A General aspects. Genetic counseling
- Discipline
- Medical genetics
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 17247092
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
10.1002/ajmg.a.30881 
https://dx.doi.org/10.1002/ajmg.a.30881
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