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Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis

Dysosteosclerosis (DSS) is the form of osteopetrosis distinguished by the presence of skin findings such as red-violet macular atrophy, platyspondyly and metaphyseal osteosclerosis with relative radiolucency of widened diaphyses. At the histopathological level, there is a paucity of osteoclasts when...

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Detalhes bibliográficos
Main Authors: Campeau, Philippe M., Lu, James T., Sule, Gautam, Jiang, Ming-Ming, Bae, Yangjin, Madan, Simran, Högler, Wolfgang, Shaw, Nicholas J., Mumm, Steven, Gibbs, Richard A., Whyte, Michael P., Lee, Brendan H.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2012
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3607481/
https://ncbi.nlm.nih.gov/pubmed/22875837
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/dds326
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