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

Detection of a Novel Mutation in X-linked Amelogenesis Imperfecta

1 Dec 2000

Abstract excerpt

Amelogenesis imperfecta (AI) is a heterogeneous group of inherited disorders of defective enamel formation. The major protein involved in enamel formation, amelogenin, is encoded by a gene located at Xp22.1-Xp22.3. This study investigated the molecular defect producing a combined phenotype of hypoplasia and hypomineralization in a family with the clinical features and inheritance pattern of X-linked amelogenesis...

Read the complete abstract on PubMed

Topics

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

Share to Bone and Dental Protein Studies
Share to dental development and anomalies
Share to Periodontal Regeneration and Treatments

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Source

Identifiers

PMID: 11201048
DOI: 10.1177/00220345000790120901

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→

Click a neighbor to travelStep 1 · 12 closest

Detection of a Novel Mutation in X-linked Amelogenesis ImperfectaPMID 11201048Read ↗

Amelogenesis imperfecta phenotype-genotype correlations with two amelogenin gene mutations.Semantic proximity Read ↗

A novel AMELX mutation causes hypoplastic amelogenesis imperfecta.Semantic proximity Read ↗

AMELX Mutations and Genotype-Phenotype Correlation in X-Linked Amelogenesis Imperfecta.Semantic proximity Read ↗

Identification of a nonsense mutation in the amelogenin gene (AMELX) in a family with X-linked amelogenesis imperfecta (AIH1).Semantic proximity Read ↗

An Intron c.103-3T>C Variant of the AMELX Gene Causes Combined Hypomineralized and Hypoplastic Type of Amelogenesis Imperfecta: Case Series and Review of the LiteratureSemantic proximity Read ↗

A nomenclature for X-linked amelogenesis imperfecta.Semantic proximity Read ↗

Characterisation of molecular defects in X-linked amelogenesis imperfecta (AIH1).Semantic proximity Read ↗

Amelogenin p.M1T and p.W4S mutations underlying hypoplastic X-linked amelogenesis imperfecta.Semantic proximity Read ↗

An amelogenin gene defect associated with human X-linked amelogenesis imperfectaSemantic proximity Read ↗

Novel Ameloblastin Variants, Contrasting Amelogenesis Imperfecta Phenotypes.Semantic proximity Read ↗

Amelogenin signal peptide mutation: correlation between mutations in the amelogenin gene (AMGX) and manifestations of X-linked amelogenesis imperfecta.Semantic proximity Read ↗

Alteration of Exon Definition Causes Amelogenesis Imperfecta.Semantic proximity Read ↗

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