Genomic Basis of Aromatase Excess Syndrome: Recombination- and Replication-Mediated Rearrangements Leading to CYP19A1 Overexpression

CONTEXT: Genomic rearrangements at 15q21 have been shown to cause overexpression of CYP19A1 and resultant aromatase excess syndrome (AEXS). However, mutation spectrum, clinical consequences, and underlying mechanisms of these rearrangements remain to be elucidated. OBJECTIVE: The aim of the study wa...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:J Clin Endocrinol Metab
Autors principals: Fukami, Maki, Tsuchiya, Takayoshi, Vollbach, Heike, Brown, Kristy A., Abe, Shuji, Ohtsu, Shigeyuki, Wabitsch, Martin, Burger, Henry, Simpson, Evan R., Umezawa, Akihiro, Shihara, Daizou, Nakabayashi, Kazuhiko, Bulun, Serdar E., Shozu, Makio, Ogata, Tsutomu
Format: Artigo
Idioma:Inglês
Publicat: Endocrine Society 2013
Matèries:
JCEM Online: Advances in Genetics
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5399493/
https://ncbi.nlm.nih.gov/pubmed/24064691
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2013-2520
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars