CYP21A2 mutations in Portuguese patients with congenital adrenal hyperplasia: Identification of two novel mutations and characterization of four different partial gene conversions (Q59286509)

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English	CYP21A2 mutations in Portuguese patients with congenital adrenal hyperplasia: Identification of two novel mutations and characterization of four different partial gene conversions	article

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scholarly article

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15 January 2020

CYP21A2 mutations in Portuguese patients with congenital adrenal hyperplasia: identification of two novel mutations and characterization of four different partial gene conversions (English)

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15 January 2020

congenital adrenal hyperplasia

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based on heuristic

inferred from title

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15 January 2020

Luís Francisco Moura

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Mário Rui Mascarenhas

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15 January 2020

João Gonçalves

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author name string

José Maria Aragüés

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15 January 2020

Alice Mirante

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Teresa Taylor Kay

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15 January 2020

Lurdes Afonso Lopes

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José Cidade Rodrigues

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Sílvia Guerra

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Teresa Dias

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15 January 2020

Alberto Galvão Teles

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Ana Toste Rêgo

2

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publication date

20 January 2006

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15 January 2020

Molecular Genetics and Metabolism

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88

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58-65

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1

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15 January 2020

CYP21 mutations and congenital adrenal hyperplasia

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.11.015

7 January 2021

Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.11.015

7 January 2021

Two genes encoding steroid 21-hydroxylase are located near the genes encoding the fourth component of complement in man

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.11.015

7 January 2021

Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: a pseudogene and a genuine gene

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.11.015

7 January 2021

PCR-based detection of the CYP21 deletion and TNXA/TNXB hybrid in the RCCX module.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.11.015

7 January 2021

Human Gene Mutation Database (HGMD): 2003 update.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.11.015

7 January 2021

Steroid 21-hydroxylase deficiency: two additional mutations in salt-wasting disease and rapid screening of disease-causing mutations.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.11.015

7 January 2021

Nomenclature for the description of human sequence variations.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.11.015

7 January 2021

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.11.015

7 January 2021

Polymorphism of the human complement C4 and steroid 21-hydroxylase genes. Restriction fragment length polymorphisms revealing structural deletions, homoduplications, and size variants

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.11.015

7 January 2021

PCR-based detection of CYP21 deletions.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.11.015

7 January 2021

Family studies of the steroid 21-hydroxylase and complement C4 genes define 11 haplotypes in classical congenital adrenal hyperplasia in The Netherlands

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.11.015

7 January 2021

Analysis of steroid 21-hydroxylase gene mutations in the Spanish population

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.11.015

7 January 2021

An intron 1 splice mutation and a nonsense mutation (W23X) in CYP21 causing severe congenital adrenal hyperplasia

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.11.015

7 January 2021

Detection and assignment of CYP21 mutations using peptide mass signature genotyping

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.11.015

7 January 2021

A Novel Missense Mutation, GLY424SER, in Brazilian Patients with 21-Hydroxylase Deficiency

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.11.015

7 January 2021

A catalogue of splice junction sequences

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.11.015

7 January 2021

Analysis of donor splice sites in different eukaryotic organisms.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.11.015

7 January 2021

Duplication of the CYP21A2 gene complicates mutation analysis of steroid 21-hydroxylase deficiency: characteristics of three unusual haplotypes

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.11.015

7 January 2021

Mutation-haplotype analysis of steroid 21-hydroxylase (CYP21) deficiency in Finland. Implications for the population history of defective alleles.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.11.015

7 January 2021

CYP21 Gene Mutation Analysis in 198 Patients with 21-Hydroxylase Deficiency in The Netherlands: Six Novel Mutations and a Specific Cluster of Four Mutations

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.11.015

7 January 2021

Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.11.015

7 January 2021

Listening to silence and understanding nonsense: exonic mutations that affect splicing

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.11.015

7 January 2021

Phenotype-Genotype Correlation in 56 Women with Nonclassical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.11.015

7 January 2021

Molecular Genotyping in Brazilian Patients with the Classical and Nonclassical Forms of 21-Hydroxylase Deficiency

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.11.015

7 January 2021

Difference in transcriptional activity of two homologous CYP21A genes

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.11.015

7 January 2021

Identifiers

10.1016/J.YMGME.2005.11.015

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16427797%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

1 reference

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15 January 2020

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