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Mutation screening of 17 Japanese patients with neuropathic Gaucher disease.

Human genetics - 1 Aug 1996

Ida H, Rennert O M, Kawame H, Ito T, Maekawa K, Eto Y

Abstract excerpt

Using PCR and PCR-single strand conformation polymorphism (SSCP) we have identified gene mutations in 17 Japanese patients with neuropathic Gaucher disease (type 2, 9 cases; type 3, 8 cases). The L444P, F213I, D409H, and 1447 del 20 and 1447 ins TG mutations accounted for eight (type 2, 6; type 3, 2), seven (type 2, 2; type 3, 5), three (type 3), and three (type 2) alleles, respectively. Three alleles were...

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PMID: 8698334
DOI: 10.1007/s004390050182

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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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