High frequency of copy number variations and sequence variants at CYP21A2 locus: implication for the genetic diagnosis of 21-hydroxylase deficiency.
about
Genotype-phenotype correlation in 27 pediatric patients in congenital adrenal hyperplasia due to 21-hydroxylase deficiency in a single centerPrenatal diagnosis of steroid 21-hydroxylase-deficient congenital adrenal hyperplasia: Experience from a tertiary care centre in India.Comprehensive genetic analysis of 182 unrelated families with congenital adrenal hyperplasia due to 21-hydroxylase deficiencyMutation analysis of the CYP21A2 gene in the Iranian population.Complement component 4 copy number variation and CYP21A2 genotype associations in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.Novel method to characterize CYP21A2 in Florida patients with congenital adrenal hyperplasia and commercially available cell lines.Prenatal treatment of congenital adrenal hyperplasia-not standard of care.Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency revisited: an update with a special focus on adolescent and adult women.NGS-Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive Medicine.Erroneous prenatal diagnosis of congenital adrenal hyperplasia owing to a duplication of the CYP21A2 gene.Comprehensive mutation analysis of the CYP21A2 gene: an efficient multistep approach to the molecular diagnosis of congenital adrenal hyperplasia.Congenital Adrenal Hyperplasia.A unique haplotype of RCCX copy number variation: from the clinics of congenital adrenal hyperplasia to evolutionary genetics.DeviCNV: detection and visualization of exon-level copy number variants in targeted next-generation sequencing dataGenetic analysis of the CYP21A2 gene in neonatal dried blood spots from children with transiently elevated 17-hydroxyprogesterone
P2860
Q33635253-CD6969EC-89BD-4906-9CCB-C12F259BE138Q33882760-356D0FD2-DDFE-4897-A0AF-A176FB1C171BQ34571853-AA5A34E9-8CBE-44EB-9B27-691902B8457EQ35752173-F957AF22-4669-4105-9808-2AE22EE84C0AQ36385217-F4C7483E-ACFE-4E55-8486-09AE99BF16FFQ37434057-667BB194-AC75-423B-9918-2C92C01AC628Q38013728-33F0BC59-A68E-4109-8D11-2DFB89B205ACQ38743172-EB544AB6-579F-4AC9-9022-F81D394F2573Q40846183-46D286DB-E67E-4593-93FE-BF394F82A551Q43789033-5F46237F-7DBE-47E6-9415-F22089A57969Q45233469-11B52BD2-CE81-41DF-9C00-BAB8EEE9D867Q51031432-1E546B3E-F376-4B6A-87EC-91DEA44D75A2Q51062599-09D09193-BF9F-4A3F-873E-433822E712BDQ57455882-154F35CC-597F-48FA-B283-C68BBCCC3D60Q58025025-AED83FEE-FA59-4B21-8E1C-3FC432221CDE
P2860
High frequency of copy number variations and sequence variants at CYP21A2 locus: implication for the genetic diagnosis of 21-hydroxylase deficiency.
description
2008 nî lūn-bûn
@nan
2008 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
High frequency of copy number ...... of 21-hydroxylase deficiency.
@ast
High frequency of copy number ...... of 21-hydroxylase deficiency.
@en
High frequency of copy number ...... of 21-hydroxylase deficiency.
@nl
type
label
High frequency of copy number ...... of 21-hydroxylase deficiency.
@ast
High frequency of copy number ...... of 21-hydroxylase deficiency.
@en
High frequency of copy number ...... of 21-hydroxylase deficiency.
@nl
prefLabel
High frequency of copy number ...... of 21-hydroxylase deficiency.
@ast
High frequency of copy number ...... of 21-hydroxylase deficiency.
@en
High frequency of copy number ...... of 21-hydroxylase deficiency.
@nl
P2093
P2860
P1433
P1476
High frequency of copy number ...... of 21-hydroxylase deficiency.
@en
P2093
Celsa Quinteiro
Fernando Domínguez
Lourdes Loidi
Silvia Parajes
P2860
P356
10.1371/JOURNAL.PONE.0002138
P407
P577
2008-05-14T00:00:00Z