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 Mutation in the IDS Gene in Hunter Syndrome Associated with Severe Cardiac Lesions.

Clinical chemistry - 1 Mar 2021

Satekge Tumelo M, Honey Engela M, Pitso Boitumelo, Dercksen Marli, Pillay Tahir S

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 Glycoproteins
Share to Heart Defects, Congenital
Share to Infant
Share to Mucopolysaccharidosis II

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Source

Identifiers

PMID: 33674846
DOI: 10.1093/clinchem/hvaa334

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel Mutation in the IDS Gene in Hunter Syndrome Associated with Severe Cardiac Lesions.PMID 33674846Read ↗

Diverse clinical outcome of Hunter syndrome in patients with chromosomal aberration encompassing entire and partial IDS deletions: what is important for early diagnosis and counseling?Semantic proximity Read ↗

Identification of 9 novel IDS gene mutations in 19 unrelated Hunter syndrome (mucopolysaccharidosis Type II) patients. Mutations in brief no. 202. Online.Semantic proximity Read ↗

Severe cardiac defect in Cornelia de Lange syndrome from a novel SMC1A variant.Semantic proximity Read ↗

Hunter disease in the Spanish population: molecular analysis in 31 families.Semantic proximity Read ↗

A novel homozygous mutation of DARS2 may cause a severe LBSL variant.Semantic proximity Read ↗

Restrictive cardiomyopathy due to novel desmin gene mutation.Semantic proximity Read ↗

Clinical utility gene card for: Johanson-Blizzard syndrome.Semantic proximity Read ↗

Analysis of the IDS Gene in 38 Patients with Hunter Syndrome: The c.879G>A (p.Gln293Gln) Synonymous Variation in a Female Create Exonic SplicingSemantic proximity Read ↗

Inversion of the IDS gene resulting from recombination with IDS-related sequences in a common cause of the Hunter syndromeSemantic proximity Read ↗

Mutation in the ADNP gene associated with Noonan syndrome features.Semantic proximity Read ↗

Rare Association of two Genetic Causes of Sudden Death in a Young Survivor.Semantic proximity Read ↗

New mutation in the non-gigantic exon of SACS in Japanese siblings.Semantic proximity Read ↗

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