A p.P30L Mutation at the CYP21A2 Gene in Macedonian Patients with Nonclassical Congenital Adrenal Hyperplasia
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2010-01-01
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Series: | Balkan Journal of Medical Genetics |
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Online Access: | https://doi.org/10.2478/v10034-010-0014-8 |
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doaj-cc7b67ddcaff480a894ddcb09803e9392021-09-05T18:26:44ZengSciendoBalkan Journal of Medical Genetics1311-01602010-01-01131172110.2478/v10034-010-0014-8A p.P30L Mutation at the CYP21A2 Gene in Macedonian Patients with Nonclassical Congenital Adrenal HyperplasiaAnastasovska V0Kocova E1Kocova MGenetics Laboratory, University Children's Clinic, Skopje, Republic of MacedoniaGenetics Laboratory, University Children's Clinic, Skopje, Republic of Macedoniahttps://doi.org/10.2478/v10034-010-0014-8cyp21a2 gene21-hydroxylase deficiencynonclassical congenital adrenal hyperplasia (ncah)p.p30l mutation |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Anastasovska V Kocova E Kocova M |
spellingShingle |
Anastasovska V Kocova E Kocova M A p.P30L Mutation at the CYP21A2 Gene in Macedonian Patients with Nonclassical Congenital Adrenal Hyperplasia Balkan Journal of Medical Genetics cyp21a2 gene 21-hydroxylase deficiency nonclassical congenital adrenal hyperplasia (ncah) p.p30l mutation |
author_facet |
Anastasovska V Kocova E Kocova M |
author_sort |
Anastasovska V |
title |
A p.P30L Mutation at the CYP21A2 Gene in Macedonian Patients with Nonclassical Congenital Adrenal Hyperplasia |
title_short |
A p.P30L Mutation at the CYP21A2 Gene in Macedonian Patients with Nonclassical Congenital Adrenal Hyperplasia |
title_full |
A p.P30L Mutation at the CYP21A2 Gene in Macedonian Patients with Nonclassical Congenital Adrenal Hyperplasia |
title_fullStr |
A p.P30L Mutation at the CYP21A2 Gene in Macedonian Patients with Nonclassical Congenital Adrenal Hyperplasia |
title_full_unstemmed |
A p.P30L Mutation at the CYP21A2 Gene in Macedonian Patients with Nonclassical Congenital Adrenal Hyperplasia |
title_sort |
p.p30l mutation at the cyp21a2 gene in macedonian patients with nonclassical congenital adrenal hyperplasia |
publisher |
Sciendo |
series |
Balkan Journal of Medical Genetics |
issn |
1311-0160 |
publishDate |
2010-01-01 |
topic |
cyp21a2 gene 21-hydroxylase deficiency nonclassical congenital adrenal hyperplasia (ncah) p.p30l mutation |
url |
https://doi.org/10.2478/v10034-010-0014-8 |
work_keys_str_mv |
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