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Article

Discrepancies between genotype and phenotype in hematology: an important frontier.

Blood - 1 Nov 2001

Beutler E

Abstract excerpt

An African American male infant with sickle cell disease has a devastating stroke; an African American soldier is surprised when he is informed that he has sickle cell disease. They are both homozygous for the same mutation. An Ashkenazi Jewish woman with Gaucher disease has a huge spleen and sev...

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Identifiers

PMID: 11675327
DOI: 10.1182/blood.v98.9.2597

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-11675327-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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