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Article

Three unique base pair changes in a family with Gaucher disease.

Human genetics - 1 Jul 1991

Eyal N, Firon N, Wilder S, Kolodny E H, Horowitz M

Abstract excerpt

Single-stranded cDNA was prepared from RNA obtained from a patient with type 1 Gaucher disease. The cDNA was amplified in vitro and analyzed by sequencing. Three base-pair changes were identified which included a G to C transversion at nucleotide 3119 of the active gene (Asp140----His), an A to C transversion at nucleotide 3170 (Lys157----Gln) and a G to A change at nucleotide 5309 (Glu326----Lys). To study the...

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Identifiers

PMID: 1864608
DOI: 10.1007/BF00200914

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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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