Analysis of the chondroitin sulfate proteoglycan core protein (CSPGCP) gene in achondroplasia and pseudoachondroplasia.

Achondroplasia and pseudoachondroplasia are autosomal dominant skeletal dysplasias resulting in short-limbed dwarfism. Histologic and ultrastructural studies of the cartilage in pseudoachondroplasia and in homozygous achondroplasia have suggested a structural abnormality in chondroitin sulfate prote...

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Autors principals: Finkelstein, J E, Doege, K, Yamada, Y, Pyeritz, R E, Graham, J M, Moeschler, J B, Pauli, R M, Hecht, J T, Francomano, C A
Format: Artigo
Idioma:Inglês
Publicat: 1991
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682749/
https://ncbi.nlm.nih.gov/pubmed/1670752
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