Characterisation of ACP5 missense mutations encoding tartrate-resistant acid phosphatase associated with spondyloenchondrodysplasia

Biallelic mutations in ACP5, encoding tartrate-resistant acid phosphatase (TRACP), have recently been identified to cause the inherited immuno-osseous disorder, spondyloenchondrodysplasia (SPENCD). This study was undertaken to characterize the eight reported missense mutations in ACP5 associated wit...

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Vydáno v:PLoS One
Hlavní autoři: Ramesh, Janani, Parthasarathy, Latha K., Janckila, Anthony J., Begum, Farhana, Murugan, Ramya, Murthy, Balakumar P. S. S., El-Mallakh, Rif S., Parthasarathy, Ranga N., Venugopal, Bhuvarahamurthy
Médium: Artigo
Jazyk:Inglês
Vydáno: Public Library of Science 2020
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7098635/
https://ncbi.nlm.nih.gov/pubmed/32214327
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0230052
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