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English
A de novo pathological point mutation at the 21-hydroxylase locus: implications for gene conversion in the human genome
scientific article published on 01 March 1993
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scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8485582
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8485582%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 October 2019
title
A de novo pathological point mutation at the 21-hydroxylase locus: implications for gene conversion in the human genome
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8485582
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8485582%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 October 2019
author name string
S Collier
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8485582
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8485582%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 October 2019
M Tassabehji
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8485582
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8485582%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 October 2019
P Sinnott
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8485582
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8485582%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 October 2019
T Strachan
series ordinal
4
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8485582
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8485582%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 October 2019
publication date
1 March 1993
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8485582
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8485582%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 October 2019
published in
Nature Genetics
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8485582
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8485582%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 October 2019
volume
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8485582
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8485582%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 October 2019
issue
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8485582
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8485582%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 October 2019
page(s)
260-265
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8485582
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8485582%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 October 2019
exact match
https://scigraph.springernature.com/pub.10.1038/ng0393-260
0 references
cites work
Mechanism and consequences of the duplication of the human C4/P450c21/gene X locus
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0393-260
retrieved
7 January 2021
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inferred from DOI database lookup
Molecular genetics of congenital adrenal hyperplasia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0393-260
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular pathology of steroid 21-hydroxylase deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0393-260
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Genesis by meiotic unequal crossover of a de novo deletion that contributes to steroid 21-hydroxylase deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0393-260
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
21-hydroxylase deficiency families with HLA identical affected and unaffected sibs.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0393-260
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutation in the CYP21B gene (Ile-172----Asn) causes steroid 21-hydroxylase deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0393-260
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Gene conversion and the generation of antibody diversity
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0393-260
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Human fetal G gamma- and A gamma-globin genes: complete nucleotide sequences suggest that DNA can be exchanged between these duplicated genes
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0393-260
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Evolution of immunoglobulin V genes: evidence indicating that recently duplicated human V kappa sequences have diverged by gene conversion
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0393-260
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The evolution of multigene families: human haptoglobin genes
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0393-260
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Null alleles of human complement C4. Evidence for pseudogenes at the C4A locus and for gene conversion at the C4B locus
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0393-260
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Evolution of human alpha 1-acid glycoprotein genes and surrounding Alu repeats
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0393-260
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Gene conversion in the evolution of the human and chimpanzee MHC class I loci
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0393-260
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Structure of human glutathione S-transferase class Mu genes
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0393-260
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
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
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0393-260
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Gene conversion-like events cause steroid 21-hydroxylase deficiency in congenital adrenal hyperplasia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0393-260
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Aberrant splicing and missense mutations cause steroid 21-hydroxylase [P-450(C21)] deficiency in humans: possible gene conversion products
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0393-260
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular genetic analysis of nonclassic steroid 21-hydroxylase deficiency associated with HLA-B14,DR1
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0393-260
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Nonsense mutation causing steroid 21-hydroxylase deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0393-260
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A mutation (Pro-30 to Leu) in CYP21 represents a potential nonclassic steroid 21-hydroxylase deficiency allele
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0393-260
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Avian B-cell development: generation of an immunoglobulin repertoire by gene conversion
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0393-260
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Sexual preference of apparent gene conversion events in MHC genes of mice
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0393-260
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Palindromic sequences are associated with sites of DNA breakage during gene conversion
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG0393-260
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1038/NG0393-260
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8485582
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8485582%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 October 2019
PubMed publication ID
8485582
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8485582
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8485582%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 October 2019
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