A GPR54-activating mutation in a patient with central precocious puberty. [electronic resource]
- The New England journal of medicine Feb 2008
- 709-15 p. digital
Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
1533-4406
10.1056/NEJMoa073443 doi
Amino Acid Sequence Child Extracellular Signal-Regulated MAP Kinases--metabolism Female Genes, Dominant Heterozygote Humans Inositol Phosphates--biosynthesis Kisspeptins Molecular Sequence Data Phosphorylation Point Mutation Puberty, Precocious--genetics Receptors, G-Protein-Coupled--chemistry Receptors, Kisspeptin-1 Sequence Analysis, DNA Signal Transduction--genetics Tumor Suppressor Proteins--metabolism