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PTHR1 mutations associated with Ollier disease result in receptor loss of function
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Document type | Article de périodique (Journal article) – Article de recherche – Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't |
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Access type | Accès libre |
Publication date | 2008 |
Language | Anglais |
Journal information | "Human Molecular Genetics" - Vol. 17, no. 18, p. 2766-75 (2008) |
Peer reviewed | yes |
Publisher | Oxford University Press ((United Kingdom) Oxford) |
issn | 0964-6906 |
e-issn | 1460-2083 |
Publication status | Publié |
Affiliations |
UCL
- SSS/IREC/CHEX - Pôle de chirgurgie expérimentale et transplantation UCL - SSS/DDUV - Institut de Duve UCL - (SLuc) Service de chirurgie plastique |
MESH Subject | Adolescent ; Adult ; Animals ; CHO Cells ; COS Cells ; Cercopithecus aethiops ; Child ; Chondroma - genetics - metabolism - physiopathology ; Cohort Studies ; Cricetinae ; Cricetulus ; Cyclic AMP - metabolism ; Enchondromatosis - genetics - metabolism - physiopathology ; Female ; Humans ; Male ; Middle Aged ; Molecular Sequence Data ; Mutation, Missense ; Parathyroid Hormone - metabolism ; Protein Binding ; Protein Structure, Tertiary ; Receptor, Parathyroid Hormone, Type 1 - chemistry - genetics - metabolism ; Signal Transduction |
Links |
Bibliographic reference | Couvineau, Alain ; Wouters, Vinciane ; Bertrand, Guylène ; Rouyer, Christiane ; Gérard, Bénédicte ; et. al. PTHR1 mutations associated with Ollier disease result in receptor loss of function. In: Human Molecular Genetics, Vol. 17, no. 18, p. 2766-75 (2008) |
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Permanent URL | http://hdl.handle.net/2078.1/27093 |