Identification of a locus for a form of spondyloepiphyseal dysplasia on chromosome 15q26.1: exclusion of aggrecan as a candidate gene

We have investigated a family with an autosomal dominant form of spondyloepiphyseal dysplasia (SED) characterised by short stature and severe premature degenerative arthropathy. Previous studies have excluded linkage between this condition and the locus for the type II collagen gene. Here we report...

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Détails bibliographiques
Auteurs principaux: Eyre, S, Roby, P, Wolstencroft, K, Spreckley, K, Aspinwall, R, Bayoumi, R, Al-Gazali, L, Ramesar, R, Beighton, P, Wallis, G
Format: Artigo
Langue:Inglês
Publié: BMJ Group 2002
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Original Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC1735219/
https://ncbi.nlm.nih.gov/pubmed/12205105
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.39.9.634
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