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Article

Rhnull syndrome: identification of a novel mutation in RHce.

Transfusion - 1 Nov 2005

Rosa K A, Reid M E, Lomas-Francis C, Powell V I, Costa F F, Stinghen S T, Watanabe A M, Carboni E K, Baldon J P, Jucksch M M F, Castilho L

Abstract excerpt

BACKGROUND: The deficiency of Rh proteins on red blood cells (RBCs) from individuals of the Rh(null) amorph type are the result of homozygosity for a silent RHCE in cis with a deleted RHD. A novel mutation in RHce was identified in two Caucasian Brazilian girls with the amorph type of Rh(null) who were born to parents who were first cousins. STUDY DESIGN AND METHODS: RBCs from the Rh(null) sisters and from family...

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Source

Identifiers

PMID: 16271106
DOI: 10.1111/j.1537-2995.2005.00605.x

Genes

RHD
RHCE

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

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Rhnull syndrome: identification of a novel mutation in RHce.PMID 16271106Read ↗

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A novel nonsense variant in RHAG underlies a Nordic Rhnull phenotype.Semantic proximity Read ↗

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Novel RHAG allele encoding the Rh(null) phenotype in Brazil.Semantic proximity Read ↗

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