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Article

Family study of a Swiss patient uncovered a novel genetic basis for the S-s-U+(var) phenotype.

Transfusion - 1 Nov 2014

Saison Carole, Waldvogel Sophie, Gien Dominique, Peyrard Thierry, Arnaud Lionel

Abstract excerpt

BACKGROUND: The rare S-s- phenotype is typically found in persons of African origin. Three genetic bases underlying this phenotype have been identified so far: a large deletion including the GYPB gene, which encodes the S and s antigens, and two mutations affecting GYPB splicing (commonly called...

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Identifiers

PMID: 24738877
DOI: 10.1111/trf.12681

Genes

GYPB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24738877-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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Family study of a Swiss patient uncovered a novel genetic basis for the S-s-U+(var) phenotype.PMID 24738877Read ↗

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A Novel Homozygous Splice Variant in the NUP188 Gene Causing Sandestig-Stefanova Syndrome in a Saudi Patient.Semantic proximity Read ↗

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