Two Novel CYP11B1 Gene Mutations in Patients from Two Croatian Families with 11β-Hydroxylase Deficiency

Steroid 11β-hydroxylase deficiency (11β-OHD) is the second most common cause of congenital adrenal hyperplasia. Mutations in the CYP11B1 gene, which encodes steroid 11β-hydroxylase, are responsible for this autosomal recessive disorder. Here, we describe the molecular genetics of two previously repo...

Descripción completa

Detalles Bibliográficos
Autores principales: Dumic, Katja, Yuen, Tony, Grubic, Zorana, Kusec, Vesna, Barisic, Ingeborg, New, Maria I.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4060432/
https://www.ncbi.nlm.nih.gov/pubmed/24987415
http://dx.doi.org/10.1155/2014/185974

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4060432/
https://www.ncbi.nlm.nih.gov/pubmed/24987415
http://dx.doi.org/10.1155/2014/185974

Ejemplares similares