Laron Dwarfism and Mutations of the Growth Hormone–Receptor Gene
- 12 October 1989
- journal article
- research article
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 321 (15) , 989-995
- https://doi.org/10.1056/nejm198910123211501
Abstract
Laron dwarfism is associated with resistance to growth hormone (GH). To investigate its genetic basis, we used genetic linkage to test whether the disorder results from a defect in the gene for the human GH receptor. Denaturing gradient gel electrophoresis and sequencing of specific GH-receptor-gene fragments allowed us to characterize specific intragenic DNA markers in 35 control subjects of Mediterranean descent, for use in linkage studies.This publication has 28 references indexed in Scilit:
- Mutations in the catalytic domain of human coagulation factor IX: Rapid characterization by direct genomic sequencing of DNA fragments displaying an altered melting behaviorGenomics, 1989
- A Child with Phenotypic Laron Dwarfism and Normal Somatomedin LevelsNew England Journal of Medicine, 1989
- Cloning and expression of the rat prolactin receptor, a member of the growth hormone/prolactin receptor gene familyCell, 1988
- Primer-Directed Enzymatic Amplification of DNA with a Thermostable DNA PolymeraseScience, 1988
- Growth hormone receptor and serum binding protein: purification, cloning and expressionNature, 1987
- Linkage of β-thalassaemia mutations and β-globin gene polymorphisms with DNA polymorphisms in human β-globin gene clusterNature, 1982
- Peripheral Unresponsiveness to Human Growth Hormone in Laron DwarfismNew England Journal of Medicine, 1980
- Purification and Characterization of Proinsulin mRNA from Rat B‐Cell TumorEuropean Journal of Biochemistry, 1979
- Estimation of Somatomedin-C Levels in Normals and Patients with Pituitary Disease by RadioimmunoassayJournal of Clinical Investigation, 1977
- Laron's dwarfism: Studies on the nature of the defectThe Journal of Pediatrics, 1973