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Article

Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient.

Human genetics - 1 Jul 2003

Caciotti Anna, Bardelli Tiziana, Cunningham John, D'Azzo Alessandra, Zammarchi Enrico, Morrone Amelia

Abstract excerpt

We report the modulating action of the L436F new polymorphism identified in the GLB1 gene of a patient affected by GM1 gangliosidosis with onset at 17 months and rapidly progressive psychomotor deterioration. Sequencing analysis and familial restriction studies revealed that the maternal allele of this patient carried the L436F polymorphism in cis with the known R201C mutation. The new mutation R68W was...

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Source

Identifiers

PMID: 12644936
DOI: 10.1007/s00439-003-0930-8

Genes

GLB1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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