Article
A missense mutation in the second transmembrane segment of the luteinizing hormone receptor causes familial male-limited precocious puberty.
The Journal of clinical endocrinology and metabolism - 1 Nov 1995
Kraaij R, Post M, Kremer H, Milgrom E, Epping W, Brunner H G, Grootegoed J A, Themmen A P
Abstract excerpt
Patients with familial male-limited precocious puberty present with early onset of puberty. Several missense mutations in the LH receptor gene that cause amino acid substitutions in the sixth transmembrane segment of the receptor protein have been shown to be a cause of the disorder. We have iden...
Topics
- Base Sequence
- Cell Line
- Child, Preschool
- Cyclic AMP
- Humans
- Male
- Molecular Probes
- Molecular Sequence Data
- Mutation
- Puberty, Precocious
- Receptors, LH
- Sex Characteristics