(Q71813478)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7588399%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

title

Divergence between genotype and phenotype in relatives of patients with the intron 2 mutation of steroid-21-hydroxylase (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7588399%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

1 reference

E. Schulze

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7588399

27 May 2024

G. Scharer

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7588399

27 May 2024

A. Rogatzki

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7588399

27 May 2024

L. Priebe

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7588399

27 May 2024

S. Lewicka

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7588399

27 May 2024

M. Bettendorf

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7588399

27 May 2024

W. Hoepffner

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7588399

27 May 2024

U. E. Heinrich

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7588399

27 May 2024

U. Schwabe

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7588399

27 May 2024

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=7588399

27 May 2024

publication date

1 February 1995

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7588399%20AND%20SRC:MED&resulttype=core&format=json

full work available at URL

21 October 2019

http://www.tandfonline.com/doi/pdf/10.3109/07435809509030452

1 reference

https://api.crossref.org/works/10.3109/07435809509030452

27 May 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7588399%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

volume

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7588399%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

issue

1-2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7588399%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

page(s)

359-364

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7588399%20AND%20SRC:MED&resulttype=core&format=json

Analysis of mutations causing steroid 21-hydroxylase deficiency

21 October 2019

cites work

1

1 reference

https://api.crossref.org/works/10.3109/07435809509030452

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

27 May 2024

2

1 reference

https://api.crossref.org/works/10.3109/07435809509030452

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

27 May 2024

3

1 reference

https://api.crossref.org/works/10.3109/07435809509030452

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

27 May 2024

4

1 reference

https://api.crossref.org/works/10.3109/07435809509030452

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

27 May 2024

5

1 reference

https://api.crossref.org/works/10.3109/07435809509030452

Prenatal diagnosis of congenital adrenal hyperplasia by direct detection of mutations in the steroid 21-hydroxylase gene

27 May 2024

6

1 reference

https://api.crossref.org/works/10.3109/07435809509030452

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

27 May 2024

7

1 reference

https://api.crossref.org/works/10.3109/07435809509030452

Specific transcription and RNA splicing defects in five cloned β-thalassaemia genes

27 May 2024

9

1 reference

https://api.crossref.org/works/10.3109/07435809509030452

27 May 2024

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7588399%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

1 reference