A p.P30L MUTATION AT THE CYP21A2 GENE IN MACEDONIAN PATIENTS WITH NONCLASSICAL CONGENITAL ADRENAL HYPERPLASIA
Anastasovska V1, Kocova E1, Kocova M1,2,*
*Corresponding Author: Professor Dr. Mirjana Kocova, University Children’s Clinic, Department of Endocrinology and Genetics, Vodnjanska 17, 1000 Skopje, Macedonia; Tel.: +38-970-242-694; Fax: +38-923-176-167; E-mail: mirjanakocova@yahoo.com
page: 19

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16. Tusie-Luna MT, Speiser PW, Dumic M, New MI, White PC. A mutation (Pro-30 to Leu) in CYP21 represents a potential nonclassic steroid 21-hydroxylase deficiency allele. Mol Endocrinol 1991; 5(5): 685-692.

17. Speiser PW, Dupont J, Zhu D, Serrat J, Buegeleisen M, Tusie-Luna MT, Lesser M, New MI, White PC. Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Invest 1992; 90(2): 584-595.

18. Dolžan V, Sólyom J, Fekete G, Kovács J, Rakosnikova V, Voltava F, Lebl J, Pribilincova Z, Baumgartner-Parzer SM, Riedl S, Waldhauser F, Frish H, Stopar-Obreza M, Kržišnik C, Battelino T. Mutational spectrum of steroid 21-hydroxylase and the genotype-phenotype association in the Middle European patients with congenital adrenal hyperplasia. Eur J Endocrinol 2005; 153(1): 99-106.

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24. Kocova M, Krstevska-Konstantinova M, Conevska B. Congenital adrenal hyperplasia in the Republic of Macedonia. 4th Asian Symposium of Childhood and Juvenile Endocrinology and Diabetes, January 26-29 1997, Chiang Mai, Thailand. Book of Abstracts, 68.

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