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

Novel single nucleotide deletion in ART4 accounts for the Gy(a-) phenotype in a woman of Lebanese origin.

Transfusion - 1 May 2021

Lubenow Norbert, Petersen Birgitta, Sandberg Mari, Jöud Magnus, Storry Jill R

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 ADP Ribose Transferases
Share to Erythrocytes
Share to Gene Deletion
Share to Infant, Newborn

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Membrane Proteins

Share to Polymorphism, Single Nucleotide

Share to Pregnancy

Source

Identifiers

PMID: 33675039
DOI: 10.1111/trf.16351

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel single nucleotide deletion in ART4 accounts for the Gy(a-) phenotype in a woman of Lebanese origin.PMID 33675039Read ↗

Molecular diagnosis of Alport syndrome: the experience in Siena.Semantic proximity Read ↗

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

POLR3A-related disorders: expanding the clinical phenotype.Semantic proximity Read ↗

Two females with distinct de novo missense pathogenic variants in MED12 and vastly differing phenotypes.Semantic proximity Read ↗

A rare ACAN non-canonical splicing-site intron variant results in familial short statureSemantic proximity Read ↗

Identification of a stably inherited novel A subtype with c.625T>G mutation.Semantic proximity Read ↗

Homozygous pathogenic variants in ACTL9 cause fertilization failure and male infertility in humans and miceSemantic proximity Read ↗

Novel homozygous variants in ASTL and WEE2 responsible for female infertility characterized by abnormal fertilizationSemantic proximity Read ↗

Unusual clinical presentation and new mutation in a case of triple A syndrome.Semantic proximity Read ↗

Additional data on the clinical phenotype of Helsmoortel-Van der Aa syndrome associated with a novel truncating mutation in ADNP gene.Semantic proximity Read ↗

Novel pathogenic ACAN variants in non-syndromic short stature patientsSemantic proximity Read ↗

Novel intronic JAG1 variant associated with Alagille syndrome in a three-generation Lebanese family with variable features.Semantic proximity Read ↗

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