Výsledky vyhledávání - "A U López-Gutiérrez"

Uniparental disomy for chromosome 6 results in steroid 21-hydroxylase deficiency: evidence of different genetic mechanisms involved in the production of the disease

Autor: Laura Riba, Salvador Ramírez-Jiménez, M T Tusié-Luna, A U López-Gutiérrez, M Cerrillo-Hinojosa, María Luisa Ordóñez-Sánchez

Publikováno v: Journal of Medical Genetics. 35:1014-1019

Congenital adrenal hyperplasia (CAH) is an inherited recessive disorder of adrenal steroidogenesis caused by mutations in the steroid 21-hydroxylase gene (CYP21) in more than 90% of affected patients. The CYP21 gene is located within the HLA complex

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c28111d3a43aa2dd461b22635f86436
https://doi.org/10.1136/jmg.35.12.1014

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