Article
A novel luteinizing hormone receptor mutation in a patient with familial male-limited precocious puberty: effect of the size of a critical amino acid on receptor activity.
Molecular genetics and metabolism - 1 Jan 1999
Wu S M, Leschek E W, Brain C, Chan W Y
Abstract excerpt
Familial male-limited precocious puberty (FMPP) is a form of luteinizing hormone-releasing hormone (LHRH)-independent isosexual precocious puberty caused by gain-of-function mutations of the luteinizing hormone/chorionic gonadotropin receptor (hLHR). The most common mutation is 1733 A>G, which ca...
Topics
- Amino Acid Sequence
- Amino Acids
- Cell Line
- Cyclic AMP
- DNA
- DNA Mutational Analysis
- Family Health
- Humans
- Infant
- Male
- Molecular Sequence Data
- Molecular Weight
- Mutation
- Puberty, Precocious
- Receptors, LH
- Structure-Activity Relationship
- Transfection