Classical and nonclassical 21-hydroxylase deficiency: a molecular study of Argentine patients.
about
Functional studies of p.R132C, p.R149C, p.M283V, p.E431K, and a novel c.652-2A>G mutations of the CYP21A2 geneStructure-based analysis of five novel disease-causing mutations in 21-hydroxylase-deficient patients.CYP21A2 gene mutations in congenital adrenal hyperplasia: genotype-phenotype correlation in Turkish childrenMolecular diagnosis of Chinese patients with 21-hydroxylase deficiency and analysis of genotype-phenotype correlations.Isolated p.H62L Mutation in the CYP21A2 Gene in a Simple Virilizing 21-Hydroxylase Deficient Patient.Two brothers with non-classical 21-hydroxylase deficiency: to treat or not to treat?CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants.Molecular genetic study of congenital adrenal hyperplasia in Serbia: novel p.Leu129Pro and p.Ser165Pro CYP21A2 gene mutations.Steroid 21-hydroxylase gene mutational spectrum in 454 Argentinean patients: genotype-phenotype correlation in a large cohort of patients with congenital adrenal hyperplasia.
P2860
Q28541471-C6E093AE-8AE0-4169-8943-E08064DE33BBQ33802852-35183824-66F2-45BF-8B6F-E3F9B7417CABQ34423067-6942D3C3-28D6-40A8-8168-813D7FD64E63Q40239909-6DC2C3CE-1B53-464D-96AE-6DDD3170A8B9Q42147595-658DA96F-C16B-438F-9EDB-C3FE41651F2DQ45113354-8368408B-21CF-4A7F-BD74-D51629E1B524Q47788216-E8B1B219-987B-4A0B-B8C7-9C78EE5AD007Q51825279-BD3ED813-A354-4749-9F76-67D1928FE3E5Q54369761-63BD737B-3BF2-4DCB-8CAD-272F5BFBE0CD
P2860
Classical and nonclassical 21-hydroxylase deficiency: a molecular study of Argentine patients.
description
2002 nî lūn-bûn
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2002年の論文
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2002年学术文章
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name
Classical and nonclassical 21- ...... r study of Argentine patients.
@en
Classical and nonclassical 21- ...... r study of Argentine patients.
@nl
type
label
Classical and nonclassical 21- ...... r study of Argentine patients.
@en
Classical and nonclassical 21- ...... r study of Argentine patients.
@nl
prefLabel
Classical and nonclassical 21- ...... r study of Argentine patients.
@en
Classical and nonclassical 21- ...... r study of Argentine patients.
@nl
P2093
P2860
P1476
Classical and nonclassical 21- ...... ar study of Argentine patients
@en
P2093
Adriana Oneto
Carolina Minutolo
Eduardo H Charreau
Liliana G Alba
Mirta Stivel
Noemí D Buzzalino
Susana Belli
Titania Pasqualini
P2860
P304
P356
10.1046/J.0300-0664.2001.01419.X
P50
P577
2002-02-01T00:00:00Z