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

Heterogeneous growth hormone (GH) gene mutations in familial GH deficiency.

The Journal of clinical endocrinology and metabolism - 1 May 1993

Cogan J D, Phillips J A, Sakati N, Frisch H, Schober E, Milner R D

Abstract excerpt

The GH1 genes of probands of two families with familial isolated GH deficiency (IGHD) were sequenced. Double stranded sequencing of the polymerase chain reaction (PCR) amplification products from genomic DNA of two affected cousins in a consanguineous Turkish family revealed a G-->A transition in the 20th codon of the GH1 signal peptide. This substitution converts a TGG (Trp) to a TAG (stop) codon and generates a...

Read the complete abstract on PubMed

Topics

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

Share to Base Sequence
Share to Child
Share to Child, Preschool

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

Share to Infant

Share to Molecular Sequence Data

Share to Mutation

Share to Polymerase Chain Reaction

Source

Identifiers

PMID: 8496314
DOI: 10.1210/jcem.76.5.8496314

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Heterogeneous growth hormone (GH) gene mutations in familial GH deficiency.PMID 8496314Read ↗

Prevalence of human GH-1 gene alterations in patients with isolated growth hormone deficiency.Semantic proximity Read ↗

Genetic screening of a Dutch population with isolated GH deficiency (IGHD).Semantic proximity Read ↗

A case with isolated growth hormone deficiency caused by compound heterozygous mutations in GH-1: a novel missense mutation in the initiation codon and a 7.6kb deletion.Semantic proximity Read ↗

Isolated growth hormone deficiency due to the R183H mutation in GH1: Clinical analysis of a four-generation family.Semantic proximity Read ↗

Type IA isolated growth hormone deficiency (IGHD) consistent with compound heterozygous deletions of 6.7 and 7.6 Kb at the GH1 gene locus.Semantic proximity Read ↗

Mutations in GH1 gene and isolated growth hormone deficiency (IGHD): A familial case of IGHD type I and systematic review.Semantic proximity Read ↗

New GH-1 gene mutations: expanding the spectrum of causes of isolated growth hormone deficiency.Semantic proximity Read ↗

Splice site mutations in GH1 detected in previously (Genetically) undiagnosed families with congenital isolated growth hormone deficiency type II.Semantic proximity Read ↗

Isolated GH deficiency with dominant inheritance: new mutations, new insights.Semantic proximity Read ↗

Isolated growth hormone deficiency type IA due to a novel GH1 variant: a case report.Semantic proximity Read ↗

A recurring dominant negative mutation causes autosomal dominant growth hormone deficiency--a clinical research center study.Semantic proximity Read ↗

Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutationsSemantic proximity Read ↗

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