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

[Molecular genetics of congenital isolated thyrotropin deficiency].

Nihon rinsho. Japanese journal of clinical medicine - 1 Apr 1994

Miyai K

Abstract excerpt

In 1971, the first case of congenital isolated thyrotropin (TSH) deficiency was reported by Miyai et al. Subsequently, the same group reported that the disease was caused by a missense mutation in the CAGYC region of the TSH-beta gene (substitution from G to A in exon 2 which altered the Gly29 [GGA] to Arg29 [AGA]). At present the same mutation was reported in 6 patients in 5 Japanese families. Dacou-Voutetakis...

Read the complete abstract on PubMed

Topics

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

Share to AGA gene
Share to GAA gene
Share to Exons

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

Share to Mutation

Share to Thyrotropin

Source

Identifiers

PMID: 8196185

Genes

AGA
GAA

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

[Molecular genetics of congenital isolated thyrotropin deficiency].PMID 8196185Read ↗

[Thyrotropin receptor gene inactivating mutation in Chinese children with congenital hypothyroidism].Semantic proximity Read ↗

[Molecular-genetic aspects of congenital hypothyroidism].Semantic proximity Read ↗

[Disorders caused by mutations of the thyrotropin receptor].Semantic proximity Read ↗

[Pathogenic TSHR variants in children with thyroid dysgenesis].Semantic proximity Read ↗

[Molecular biology and laboratory diagnosis of hypothalamic-pituitary-thyroid axis].Semantic proximity Read ↗

[Mutations in TSH receptors: pathogenetic significance and clinical relevance].Semantic proximity Read ↗

[Mutations in thyrotropin receptors as a cause of thyroid dysfunction].Semantic proximity Read ↗

[Molecular pathology of congenital pituitary hypothyroidism--discovery of new clinical entities].Semantic proximity Read ↗

Low TSH congenital hypothyroidism: identification of a novel mutation of the TSH beta-subunit gene in one sporadic case (C85R) and of mutation Q49stop in two siblings with congenital hypothyroidism.Semantic proximity Read ↗

[Familial congenital hypothyroidism due to loss of function mutation of the thyrotropin receptor (resistance to thyrotropin)].Semantic proximity Read ↗

[Congenital TSH * PRL combined deficiency (TRH receptor gene mutation)].Semantic proximity Read ↗

[From gene to disease; thyroid stimulating hormone receptor, hyperthyroidism and hypothyroidism].Semantic proximity Read ↗

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