A GPR54-activating mutation in a patient with central precocious puberty.
Teles, Milena Gurgel
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
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