(Q72067840)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8034294%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

title

Characterization of mutations on the rare duplicated C4/CYP21 haplotype in steroid 21-hydroxylase deficiency (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8034294%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

author name string

A Wedell

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8034294%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

B Stengler

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8034294%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

H Luthman

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8034294%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

publication date

1 July 1994

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8034294%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8034294%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

volume

94

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8034294%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8034294%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

page(s)

50-54

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8034294%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/bf02272841

23 October 2019

exact match

0 references

cites work

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

1 reference

12 December 2020

R339H and P453S: CYP21 mutations associated with nonclassic steroid 21-hydroxylase deficiency that are not apparent gene conversions

1 reference

12 December 2020

Nonsense mutation causing steroid 21-hydroxylase deficiency

1 reference

12 December 2020

Direct solid phase sequencing of genomic and plasmid DNA using magnetic beads as solid support.

1 reference

12 December 2020

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

1 reference

12 December 2020

Molecular characterization of the HLA-linked steroid 21-hydroxylase B gene from an individual with congenital adrenal hyperplasia

1 reference

12 December 2020

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

1 reference

12 December 2020

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

12 December 2020

A missense mutation at Ile172----Asn or Arg356----Trp causes steroid 21-hydroxylase deficiency.

1 reference

12 December 2020

Distribution of deletions and seven point mutations on CYP21B genes in three clinical forms of steroid 21-hydroxylase deficiency

1 reference

12 December 2020

Pro-453 to Ser mutation in CYP21 is associated with nonclassic steroid 21-hydroxylase deficiency

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

A mutation (Pro-30 to Leu) in CYP21 represents a potential nonclassic steroid 21-hydroxylase deficiency allele

1 reference

12 December 2020

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

1 reference

12 December 2020

Pulsed field gel electrophoresis identifies a high degree of variability in the number of tandem 21-hydroxylase and complement C4 gene repeats in 21-hydroxylase deficiency haplotypes

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF02272841

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8034294%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

1 reference