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Article

Mutations responsible for 3-phosphoserine phosphatase deficiency.

European journal of human genetics : EJHG - 1 Feb 2004

Veiga-da-Cunha Maria, Collet Jean-François, Prieur Benoît, Jaeken Jaak, Peeraer Yves, Rabbijns Anja, Van Schaftingen Emile

Abstract excerpt

We report the identification of the mutations in the only known case of L-3-phosphoserine phosphatase deficiency, a recessively inherited condition. The two mutations correspond to the replacement of the semiconserved Asp32 residue by an asparagine and of the extremely conserved Met52 by a threonine. The effects of both mutations were studied on the human recombinant enzyme, expressed in Escherichia coli....

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PMID: 14673469
DOI: 10.1038/sj.ejhg.5201083

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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