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

Analysis of the AAAS gene in a Japanese patient with triple A syndrome.

Endocrine journal - 1 Feb 2002

Katsumata Noriyuki, Hirose Hiroyuki, Kagami Masayo, Tanaka Toshiaki

Abstract excerpt

Triple A syndrome, also known as Allgrove syndrome, is a rare autosomal recessive disorder characterized by adrenal insufficiency, achalasia and alacrima. It has recently been reported that this syndrome is caused by mutations in the AAAS gene. In the present study, we analyzed the AAAS gene in a Japanese patient with triple A syndrome. The patient was a Japanese girl previously reported by Hirose et al. (J Jpn...

Read the complete abstract on PubMed

Topics

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

Share to Adrenal Insufficiency
Share to Esophageal Achalasia
Share to Infant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Nerve Tissue Proteins

Share to Nuclear Pore Complex Proteins

Share to Polymorphism, Restriction Fragment Length

Share to Proteins

Source

Identifiers

PMID: 12008750
DOI: 10.1507/endocrj.49.49

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Analysis of the AAAS gene in a Japanese patient with triple A syndrome.PMID 12008750Read ↗

Two cases of Allgrove syndrome with mutations in the AAAS gene.Semantic proximity Read ↗

Clinical and genetic characterisation of a series of patients with triple A syndrome.Semantic proximity Read ↗

Novel Mutations in a Patient with Triple A Syndrome.Semantic proximity Read ↗

Identification of AAAS gene mutation in Allgrove syndrome: A report of three casesSemantic proximity Read ↗

Mutation spectra of the AAAS gene in Iranian families with Allgrove Syndrome.Semantic proximity Read ↗

A novel AAAS gene mutation (p.R194X) in a patient with triple A syndrome.Semantic proximity Read ↗

Triple A syndrome: a novel compound heterozygous mutation in the AAAS gene in an Italian patient without adrenal insufficiency.Semantic proximity Read ↗

Long-term clinical follow-up and molecular genetic findings in eight patients with triple A syndrome.Semantic proximity Read ↗

Triple A or Allgrove syndrome. A case report with ophthalmic abnormalities and a novel mutation in the AAAS gene.Semantic proximity Read ↗

[Allgrove syndrome in the mainland of China: clinical report and mutation analysis].Semantic proximity Read ↗

Identification of two novel and four known mutation in the AAAS gene in unrelated Turkish FamiliesSemantic proximity Read ↗

Genotypic heterogeneity and clinical phenotype in triple A syndrome: a review of the NIH experience 2000-2005.Semantic proximity Read ↗

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