Article
The cytochrome P450 aromatase lacking exon 5 is associated with a phenotype of nonclassic aromatase deficiency and is also present in normal human steroidogenic tissues.
Clinical endocrinology - 1 Nov 2007
Pepe Carolina M, Saraco Nora I, Baquedano Maria Sonia, Guercio Gabriela, Vaiani Elisa, Marino Roxana, Pandey Amit V, Flück Christa E, Rivarola Marco A, Belgorosky Alicia
Abstract excerpt
OBJECTIVE: The previously described c655G>A mutation of the human cytochrome P450 aromatase gene (P450aro, CYP19) results in aberrant splicing due to disruption of a donor splice site. To explain the phenotype of partial aromatase deficiency observed in a female patient described with this mutation, molecular consequences of the c655G>A mutation were investigated. DESIGN: To investigate whether the c655G>A...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.