Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum.

Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are autosomal dominant osteochondrodysplasias that result in mild to severe short-limb dwarfism and early-onset osteoarthrosis. PSACH and some forms of MED result from mutations in the gene for cartilage oligomeric matrix protein (...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Briggs, M D, Mortier, G R, Cole, W G, King, L M, Golik, S S, Bonaventure, J, Nuytinck, L, De Paepe, A, Leroy, J G, Biesecker, L, Lipson, M, Wilcox, W R, Lachman, R S, Rimoin, D L, Knowlton, R G, Cohn, D H
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 1998
Pynciau:
Research Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC1376889/
https://ncbi.nlm.nih.gov/pubmed/9463320
Tagiau: Ychwanegu Tag
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