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

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 locus on chromosome 6 (6p21.3). During a molecular...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: López-Gutiérrez, A U, Riba, L, Ordoñez-Sánchez, M L, Ramírez-Jiménez, S, Cerrillo-Hinojosa, M, Tusié-Luna, M T
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: 1998
Θέματα:
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051514/
https://ncbi.nlm.nih.gov/pubmed/9863599
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