A novel MKRN3 nonsense mutation causing familial central precocious puberty.
Τίτλος | A novel MKRN3 nonsense mutation causing familial central precocious puberty. |
Publication Type | Journal Article |
Year of Publication | 2017 |
Authors | Christoforidis, A., Skordis N., Fanis P., Dimitriadou M., Sevastidou M., Phelan M. M., Neocleous V., & Phylactou L. A. |
Journal | Endocrine |
Volume | 56 |
Issue | 2 |
Pagination | 446-449 |
Date Published | 2017 May |
ISSN | 1559-0100 |
Λέξεις κλειδιά | Amino Acid Substitution, Child, Codon, Nonsense, DNA Mutational Analysis, Fathers, Female, Heterozygote, Humans, Pedigree, Puberty, Precocious, Ribonucleoproteins, Sex Distribution, Siblings |
DOI | 10.1007/s12020-017-1232-6 |
Alternate Journal | Endocrine |
PubMed ID | 28132164 |