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Article

Identification of a CTL4/Neu1 fusion transcript in a sialidosis patient.

FEBS letters - 19 Jun 2002

Uhl Johannes, Penzel Roland, Sergi Consolato, Kopitz Jürgen, Otto Herwart F, Cantz Michael

Abstract excerpt

The deficiency of the lysosomal neuraminidase (NEU1; sialidase) causes the storage disorder sialidosis with symptoms ranging from eye abnormalities and neurological disturbances to skeletal malformations, mental retardation and early death. Sialidosis patients encompassing a wide spectrum of clinical symptoms were screened for mutations in neu1. We identified the same homozygous interstitial deletion (11 kb) in...

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Source

Identifiers

PMID: 12067718
DOI: 10.1016/s0014-5793(02)02748-5

Genes

NEU1

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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