(Q72253530)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8112748%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

title

A steroid 21-hydroxylase allele concomitantly carrying four disease-causing mutations is not uncommon in the swedish population (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8112748%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

author name string

A Wedell

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8112748%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

X Chun

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8112748%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

H Luthman

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8112748%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

publication date

1 February 1994

1 reference

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25 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8112748%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

volume

93

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8112748%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8112748%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

page(s)

204-206

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8112748%20AND%20SRC:MED&resulttype=core&format=json

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

25 October 2019

cites work

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

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

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

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/BF00210612

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8112748%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

1 reference