Rh50 glycoprotein gene and rhnull disease: a silent splice donor is trans to a Gly279-->Glu missense mutation in the conserved transmembrane segment.

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Article

Rh50 glycoprotein gene and rhnull disease: a silent splice donor is trans to a Gly279-->Glu missense mutation in the conserved transmembrane segment.

Blood - 1 Sept 1998

Huang C H, Liu Z, Cheng G, Chen Y

Abstract excerpt

Rhnull disease includes the amorph and regulator types that are thought to result from homozygous mutations at the RH30 and RH50 loci, respectively. Here we report an unusual regulator Rhnull where two G-->A nucleotide (nt) transitions occurred in trans, targeting different regions of the two cop...

Topics

Amino Acid Sequence
Base Sequence
Blood Proteins
Blotting, Western
DNA Mutational Analysis
DNA, Complementary
Exons
Female
Genotype
Glutamic Acid
Glycine
Glycoproteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Introns

Membrane Glycoproteins

Molecular Sequence Data

Mutation

RNA Splicing

Source

Open in PubMed

Identifiers

PMID: 9716608

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9716608-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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