A p.P30L Mutation at the CYP21A2 Gene in Macedonian Patients with Nonclassical Congenital Adrenal Hyperplasia

Bibliographic Details
Main Authors: Anastasovska V, Kocova E, Kocova M
Format: Article
Language:English
Published: Sciendo 2010-01-01
Series:Balkan Journal of Medical Genetics
Subjects:
Online Access:https://doi.org/10.2478/v10034-010-0014-8
id doaj-cc7b67ddcaff480a894ddcb09803e939
record_format Article
spelling 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 AT anastasovskav app30lmutationatthecyp21a2geneinmacedonianpatientswithnonclassicalcongenitaladrenalhyperplasia
AT kocovae app30lmutationatthecyp21a2geneinmacedonianpatientswithnonclassicalcongenitaladrenalhyperplasia
AT kocovam app30lmutationatthecyp21a2geneinmacedonianpatientswithnonclassicalcongenitaladrenalhyperplasia
AT anastasovskav pp30lmutationatthecyp21a2geneinmacedonianpatientswithnonclassicalcongenitaladrenalhyperplasia
AT kocovae pp30lmutationatthecyp21a2geneinmacedonianpatientswithnonclassicalcongenitaladrenalhyperplasia
AT kocovam pp30lmutationatthecyp21a2geneinmacedonianpatientswithnonclassicalcongenitaladrenalhyperplasia
_version_ 1717786084748820480