(Q70670368)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8478006%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8478006%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

author name string

A Wedell

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8478006%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

H Luthman

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8478006%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

publication date

1 April 1993

1 reference

13 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8478006%20AND%20SRC:MED&resulttype=core&format=json

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8478006%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

volume

91

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8478006%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

page(s)

236-240

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8478006%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

issue

3

1 reference

https://scigraph.springernature.com/pub.10.1007/bf00218263

13 October 2019

exact match

0 references

cites work

Structural analysis of cloned cDNA for mRNA of microsomal cytochrome P-450(C21) which catalyzes steroid 21-hydroxylation in bovine adrenal cortex

1 reference

12 December 2020

High-resolution crystal structure of cytochrome P450cam

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Nonsense mutation causing steroid 21-hydroxylase deficiency

1 reference

12 December 2020

High frequency of nonclassical 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

Human cholesterol side-chain cleavage enzyme, P450scc: cDNA cloning, assignment of the gene to chromosome 15, and expression in the placenta

1 reference

12 December 2020

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

1 reference

12 December 2020

Complete amino acid sequence of 21-hydroxylase cytochrome P-450 from porcine adrenal microsomes

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

Identification and location of alpha-helices in mammalian cytochromes P450

1 reference

12 December 2020

Nucleotide sequence analysis of murine 21-hydroxylase genes: mutations affecting gene expression

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

21-hydroxylase deficiency: disease-causing mutations categorized by densitometry of 21-hydroxylase-specific deoxyribonucleic acid fragments

1 reference

12 December 2020

Cloning and sequence of the human gene for P450c17 (steroid 17 alpha-hydroxylase/17,20 lyase): similarity with the gene for P450c21

1 reference

12 December 2020

Cloning of cDNA encoding steroid 11 beta-hydroxylase (P450c11)

1 reference

12 December 2020

Structure of human steroid 21-hydroxylase genes

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

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

1 reference

12 December 2020

Structure of a bovine gene for P-450c21 (steroid 21-hydroxylase) defines a novel cytochrome P-450 gene family

1 reference

12 December 2020

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

The molecular genetics of 21-hydroxylase deficiency

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

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

1 reference

12 December 2020

Congenital adrenal hyperplasia. (1).

1 reference

12 December 2020

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

1 reference

12 December 2020