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Article

Identification of a novel recombinant allele in three unrelated Italian Gaucher patients: implications for prognosis and genetic counseling.

Blood cells, molecules & diseases - 1 Aug 2000

Filocamo M, Bonuccelli G, Mazzotti R, Giona F, Gatti R

Abstract excerpt

Gaucher disease (GD) results from deleterious mutations in the glucocerebrosidase gene. The relatively high frequency of some of these, especially at cDNA nucleotide 1226G (N370S) and at cDNA nucleotide 1448C (L444P), has led to the development of rapid screening techniques that can sometimes be misleading. In this report, we describe a novel rearrangement between the glucocerebrosidase gene and its pseudogene,...

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Source

Identifiers

PMID: 11042032
DOI: 10.1006/bcmd.2000.0308

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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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Identification of a novel recombinant allele in three unrelated Italian Gaucher patients: implications for prognosis and genetic counseling.PMID 11042032Read ↗

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