Articles with "leu254insasn mutation" as a keyword



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Functional analysis of p.Ala253_Leu254insAsn mutation in PLS3 responsible for X‐linked osteoporosis

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Published in 2018 at "Clinical Genetics"

DOI: 10.1111/cge.13081

Abstract: Mutations in Plastin‐3 (PLS3) have been identified as a cause of X‐linked osteoporosis. To reveal the molecular mechanism of PLS3 on osteoporosis, we characterized the p.Ala253_Leu254insAsn mutation in PLS3. We first identified Lymphocyte cytosolic protein… read more here.

Keywords: mutation pls3; linked osteoporosis; ala253 leu254insasn; leu254insasn mutation ... See more keywords