Article
Exclusion of growth hormone (GH)-releasing hormone gene mutations in familial isolated GH deficiency by linkage and single strand conformation analysis.
The Journal of clinical endocrinology and metabolism - 1 Mar 1994
Pérez Jurado L A, Phillips J A, Francke U
Abstract excerpt
The molecular basis and the locus responsible for most familial cases of isolated GH deficiency (IGHD) are still unknown. The GH-releasing hormone (GHRH) gene has been evaluated as a possible candidate in 23 unrelated families with IGHD, 14 of whom were classified as having autosomal recessive IG...
Topics
- Base Sequence
- DNA
- Electrophoresis
- Genetic Linkage
- Growth Hormone
- Growth Hormone-Releasing Hormone
- Humans
- Molecular Conformation
- Molecular Sequence Data
- Mutation
- Oligonucleotide Probes
- Pedigree
- Polymerase Chain Reaction