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Article

Erroneous assignment of Gaucher disease genotype as a consequence of a complete gene deletion.

Human mutation - 1 Jan 1994

Beutler E, Gelbart T

Abstract excerpt

Two sisters with moderately severe Gaucher disease were diagnosed as having the usually relatively benign 1226G/1226G genotype by examination of DNA amplified from exon 9, where this mutation is located. Because of the discrepancy between the apparent genotype and the phenotype, we suspected that one of the alleles had not amplified. Therefore, the DNA of both parents was examined. The father was heterozygous for...

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PMID: 7833951
DOI: 10.1002/humu.1380040307

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PKLR

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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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Erroneous assignment of Gaucher disease genotype as a consequence of a complete gene deletion.PMID 7833951Read ↗

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