Article
A naturally occurring growth hormone receptor mutation: in vivo and in vitro evidence for the functional importance of the WS motif common to all members of the cytokine receptor superfamily.
Molecular endocrinology (Baltimore, Md.) - 1 Jun 1993
Duriez B, Sobrier M L, Duquesnoy P, Tixier-Boichard M, Decuypere E, Coquerelle G, Zeman M, Goossens M, Amselem S
Abstract excerpt
To obtain an animal model for studying the role of the GH receptor (GHR) in growth and development, we analyzed a sex-linked dwarf (SLD) chicken strain (Leghorn) which exhibits phenotype similarities with a human genetic growth disorder, an autosomal recessive GH resistance condition (Laron dwarf...
Topics
- Amino Acid Sequence
- Animals
- Cell Line
- Chickens
- DNA
- Dwarfism
- Female
- Fluorescent Antibody Technique
- Growth Hormone
- Humans
- Molecular Sequence Data
- Mutation
- Nucleic Acid Hybridization
- Phenotype