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

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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Bibliographic Details
Main Authors: Janani Ramesh, Latha K Parthasarathy, Anthony J Janckila, Farhana Begum, Ramya Murugan, Balakumar P S S Murthy, Rif S El-Mallakh, Ranga N Parthasarathy, Bhuvarahamurthy Venugopal
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2020-01-01
Series:PLoS ONE
Online Access:https://doi.org/10.1371/journal.pone.0230052

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https://doi.org/10.1371/journal.pone.0230052

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