(Q72234633)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7749410%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

title

Screening of CYP21 gene mutations in 129 French patients affected by steroid 21-hydroxylase deficiency (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7749410%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

author name string

B Barbat

1

1 reference

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25 October 2019

A Bogyo

2

1 reference

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25 October 2019

M C Raux-Demay

3

1 reference

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25 October 2019

F Kuttenn

4

1 reference

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25 October 2019

J Boué

5

1 reference

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25 October 2019

B Simon-Bouy

6

1 reference

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25 October 2019

J L Serre

7

1 reference

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25 October 2019

E Mornet

8

1 reference

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25 October 2019

publication date

1 January 1995

1 reference

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25 October 2019

1 reference

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25 October 2019

volume

5

1 reference

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25 October 2019

page(s)

126-130

1 reference

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25 October 2019

issue

2

1 reference

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Mutation in the CYP21B gene (Ile-172----Asn) causes steroid 21-hydroxylase deficiency

25 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050205

7 January 2021

Mapping of steroid 21-hydroxylase genes adjacent to complement component C4 genes in HLA, the major histocompatibility complex in man.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050205

7 January 2021

Detection of over 98% cystic fibrosis mutations in a Celtic population

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050205

7 January 2021

Rearrangement of 21-hydroxylase genes in disease-associated MHC supratypes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050205

7 January 2021

Nonsense mutation causing steroid 21-hydroxylase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050205

7 January 2021

Haplotypes of the steroid 21-hydroxylase gene region encoding mild steroid 21-hydroxylase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050205

7 January 2021

Gene conversion-like events cause steroid 21-hydroxylase deficiency in congenital adrenal hyperplasia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050205

7 January 2021

How sensitive is PCR-SSCP?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050205

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/10.1002%2FHUMU.1380050205

7 January 2021

Aberrant splicing and missense mutations cause steroid 21-hydroxylase [P-450(C21)] deficiency in humans: possible gene conversion products

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050205

7 January 2021

Effects of individual mutations in the P-450(C21) pseudogene on the P-450(C21) activity and their distribution in the patient genomes of congenital steroid 21-hydroxylase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050205

7 January 2021

The molecular genetics of 21-hydroxylase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050205

7 January 2021

Rearrangements and point mutations of P450c21 genes are distinguished by five restriction endonuclease haplotypes identified by a new probing strategy in 57 families with congenital adrenal hyperplasia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050205

7 January 2021

Associations between restriction fragment length polymorphisms detected with a probe for human 21-hydroxylase (21-OH) and two clinical forms of 21-OH deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050205

7 January 2021

First trimester prenatal diagnosis of 21-hydroxylase deficiency by linkage analysis to HLA-DNA probes and by 17-hydroxyprogesterone determination

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050205

7 January 2021

Direct analysis of CYP21B genes in 21-hydroxylase deficiency using polymerase chain reaction amplification

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050205

7 January 2021

Early prenatal diagnosis of 21-hydroxylase deficiency using amniotic fluid 17-hydroxyprogesterone determination and DNA probes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050205

7 January 2021

Nine mutations in the cystic fibrosis (CF) gene account for 80% of the CF chromosomes in French patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050205

7 January 2021

CYP21/C4 gene organisation in Italian 21-hydroxylase deficiency families

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050205

7 January 2021

Molecular genetic analysis of nonclassic steroid 21-hydroxylase deficiency associated with HLA-B14,DR1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050205

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050205

7 January 2021

Molecular analysis of patient and carrier genes with congenital steroid 21-hydroxylase deficiency by using polymerase chain reaction and single strand conformation polymorphism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050205

7 January 2021

Steroid 21-hydroxylase deficiency: three additional mutated alleles and establishment of phenotype-genotype relationships of common mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050205

7 January 2021

Steroid 21-hydroxylase (P450c21): a new allele and spread of mutations through the pseudogene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050205

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/10.1002%2FHUMU.1380050205

7 January 2021

Structure of human steroid 21-hydroxylase genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050205

7 January 2021

Congenital adrenal hyperplasia (2).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050205

7 January 2021

Mutations of P450c21 (steroid 21-hydroxylase) at Cys428, Val281, and Ser268 result in complete, partial, or no loss of enzymatic activity, respectively

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050205

7 January 2021

Identifiers

DOI

10.1002/HUMU.1380050205

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7749410%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

1 reference