Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Description of the first case of c.137-8C>T GYPB mutation not associated to the GYPB(P2) allele.

Blood transfusion = Trasfusione del sangue - 1 Sept 2024

Collodel Luca, Mancuso Tommaso, Gessoni Gianluca

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alleles
Share to Glycophorins
Share to Mutation

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Open in PubMed Open full text

Identifiers

PMID: 38814878
DOI: 10.2450/BloodTransfus.807
PMCID: PMC11390614

Genes

GYPB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Description of the first case of c.137-8C>T GYPB mutation not associated to the GYPB(P2) allele.PMID 38814878Read ↗

Uncommon S-s-U+ phenotype encoded by two novel GYPB alleles.Semantic proximity Read ↗

A novel homozygous nonsense mutation in GYPB causes S-s-U-phenotype.Semantic proximity Read ↗

First report of a null allele on a GYPB*s background: GYPB*s(37 + 4_8delAGTGA).Semantic proximity Read ↗

A novel GYPA*01 allele with a c.125C > G (p.Thr42Ser) mutation identified in a Chinese individual.Semantic proximity Read ↗

A CMT2 family carrying the P7R mutation in the N- terminal region of the HSPB1 gene.Semantic proximity Read ↗

KID syndrome in a Malaysian child with identification of novel heterozygous missense mutation GJB2 c.581T>A(p. 194Phe>Tyr).Semantic proximity Read ↗

RHD Tyr311Stop encoded by a novel nonsense mutation.Semantic proximity Read ↗

A novel B allele with c.502C>G mutation identified in a Chinese individual.Semantic proximity Read ↗

New case with the recurrent c.625G>A pathogenic variant in the PACS2 gene: expanding the phenotype.Semantic proximity Read ↗

A second case of Hb Renert [beta133(H11)Val --> Ala].Semantic proximity Read ↗

Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophySemantic proximity Read ↗

Novel RHD allele with c.333C>G change predicted to encode p.Phe111Leu.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.