Mutation creating a new splice site in the growth hormone receptor genes of 37 Ecuadorean patients with Laron syndrome.

doi:10.1002/humu.1380010105

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

Back to search

Article

Mutation creating a new splice site in the growth hormone receptor genes of 37 Ecuadorean patients with Laron syndrome.

Human mutation - 1 Jan 1992

Berg M A, Guevara-Aguirre J, Rosenbloom A L, Rosenfeld R G, Francke U

Abstract excerpt

Laron syndrome is an autosomal recessive condition characterized by resistance to growth hormone. We sought to determine the molecular basis of this condition in an Ecuadorean population with a high incidence of affected individuals. Growth hormone receptor gene sequences from an obligate heterozygote were amplified by the polymerase chain reaction and screened for mutations using denaturing gradient gel...

Topics

Alternative Splicing
Amino Acid Sequence
Animals
Base Sequence
DNA
Ecuador
Exons
Female
Growth Disorders
Growth Hormone
Humans
Leukocytes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Molecular Sequence Data

Mutation

Oligodeoxyribonucleotides

Pedigree

Polymerase Chain Reaction

Source

Open in PubMed

Identifiers

PMID: 1284474
DOI: 10.1002/humu.1380010105

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1284474-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutation creating a new splice site in the growth hormone receptor genes of 37 Ecuadorean patients with Laron syndrome.PMID 1284474Read ↗

Spectrum of growth hormone receptor mutations and associated haplotypes in Laron syndrome.Semantic proximity Read ↗

Diverse growth hormone receptor gene mutations in Laron syndrome.Semantic proximity Read ↗

Receptor mutations and haplotypes in growth hormone receptor deficiency: a global survey and identification of the Ecuadorean E180splice mutation in an oriental Jewish patient.Semantic proximity Read ↗

Characterization of a noncontiguous gene deletion of the growth hormone receptor in Laron's syndrome.Semantic proximity Read ↗

Identification of a novel mutation in the human growth hormone receptor gene (GHR) in a patient with Laron syndrome.Semantic proximity Read ↗

Nine novel growth hormone receptor gene mutations in patients with Laron syndrome.Semantic proximity Read ↗

Novel splice site mutation in the growth hormone receptor gene in Turkish patients with Laron-type dwarfism.Semantic proximity Read ↗

Growth hormone receptor gene mutations in two Italian patients with Laron Syndrome.Semantic proximity Read ↗

[Founder effect of E180splice mutation in growth hormone receptor gene (GHR) identified in Brazilian patients with GH insensitivity].Semantic proximity Read ↗

Molecular defects of the growth hormone receptor gene, including a new mutation, in Laron syndrome patients in Israel: relationship between defects and ethnic groups.Semantic proximity Read ↗

Novel mutation involving the translation initiation codon of the growth hormone receptor gene (GHR) in a patient with Laron syndrome.Semantic proximity Read ↗

Severe growth hormone insensitivity (Laron syndrome) due to nonsense mutation of the GH receptor in brothers from Russia.Semantic proximity Read ↗

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