Article
Characterization of a noncontiguous gene deletion of the growth hormone receptor in Laron's syndrome.
The Journal of clinical endocrinology and metabolism - 1 Nov 1993
Meacham L R, Brown M R, Murphy T L, Keret R, Silbergeld A, Laron Z, Parks J S
Abstract excerpt
Noncontiguous deletion of the GH receptor (GHR) gene has been described as a molecular defect causing Laron's syndrome (LS). The abnormal allele (GHR Del-3,5,6) lacks exons 3, 5, and 6. Exon 4 is retained on variant-sized restriction fragments. We studied DNA from 10 additional LS subjects of Jew...
Topics
- Alleles
- Base Sequence
- Exons
- Gene Deletion
- Genome
- Growth Disorders
- Humans
- Molecular Probes
- Molecular Sequence Data
- Polymerase Chain Reaction
- RNA, Messenger
- Receptors, Somatotropin
- Transcription, Genetic