Bone Dysplasia Sclerosteosis Results from Loss of the SOST Gene Product, a Novel Cystine Knot–Containing Protein

Sclerosteosis is an autosomal recessive sclerosing bone dysplasia characterized by progressive skeletal overgrowth. The majority of affected individuals have been reported in the Afrikaner population of South Africa, where a high incidence of the disorder occurs as a result of a founder effect. Homo...

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Bibliografiset tiedot
Päätekijät: Brunkow, Mary E., Gardner, Jessica C., Van Ness, Jeff, Paeper, Bryan W., Kovacevich, Brian R., Proll, Sean, Skonier, John E., Zhao, L., Sabo, P. J., Fu, Ying-Hui, Alisch, Reid S., Gillett, Lucille, Colbert, Trenton, Tacconi, Paolo, Galas, David, Hamersma, Herman, Beighton, Peter, Mulligan, John T.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: The American Society of Human Genetics 2001
Aiheet:
Articles
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC1274471/
https://ncbi.nlm.nih.gov/pubmed/11179006
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