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Article

Funtional characterization of four novel MAN2B1 mutations causing juvenile onset alpha-mannosidosis.

Clinica chimica acta; international journal of clinical chemistry - 1 Jan 2007

Pittis M G, Montalvo A L E, Heikinheimo P, Sbaragli M, Balducci C, Persichetti E, Van Maldergem L, Filocamo M, Bembi B, Beccari T

Abstract excerpt

Alpha-mannosidosis is a recessively inherited disorder due to the deficiency of the lysosomal alpha-mannosidase. We report the molecular analysis performed in two patients with the late onset form of alpha-mannosidosis. Four new alleles were identified: three missense mutations involving highly conserved residues, c.597 C>A (p.H200N), c.1553 T>C (p.L518P) and c.2746 C>A (p.R916S) and a single nucleotide deletion,...

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PMID: 16919251
DOI: 10.1016/j.cca.2006.06.034

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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