(Q70691306)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8485582%20AND%20SRC:MED&resulttype=core&format=json

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

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13 October 2019

author name string

S Collier

1

1 reference

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13 October 2019

M Tassabehji

2

1 reference

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13 October 2019

P Sinnott

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8485582%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

T Strachan

4

1 reference

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13 October 2019

publication date

1 March 1993

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13 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8485582%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

volume

3

1 reference

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13 October 2019

page(s)

260-265

1 reference

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13 October 2019

issue

3

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https://scigraph.springernature.com/pub.10.1038/ng0393-260

13 October 2019

exact match

0 references

cites work

Mechanism and consequences of the duplication of the human C4/P450c21/gene X locus

1 reference

https://api.crossref.org/works/10.1038%2FNG0393-260

7 January 2021

Molecular genetics of congenital adrenal hyperplasia

1 reference

https://api.crossref.org/works/10.1038%2FNG0393-260

7 January 2021

Molecular pathology of steroid 21-hydroxylase deficiency

1 reference

https://api.crossref.org/works/10.1038%2FNG0393-260

7 January 2021

Genesis by meiotic unequal crossover of a de novo deletion that contributes to steroid 21-hydroxylase deficiency

1 reference

https://api.crossref.org/works/10.1038%2FNG0393-260

7 January 2021

21-hydroxylase deficiency families with HLA identical affected and unaffected sibs.

1 reference

https://api.crossref.org/works/10.1038%2FNG0393-260

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0393-260

7 January 2021

Gene conversion and the generation of antibody diversity

1 reference

https://api.crossref.org/works/10.1038%2FNG0393-260

7 January 2021

Human fetal G gamma- and A gamma-globin genes: complete nucleotide sequences suggest that DNA can be exchanged between these duplicated genes.

1 reference

https://api.crossref.org/works/10.1038%2FNG0393-260

7 January 2021

Evolution of immunoglobulin V genes: evidence indicating that recently duplicated human V kappa sequences have diverged by gene conversion

1 reference

https://api.crossref.org/works/10.1038%2FNG0393-260

7 January 2021

The evolution of multigene families: human haptoglobin genes

1 reference

https://api.crossref.org/works/10.1038%2FNG0393-260

7 January 2021

Null alleles of human complement C4. Evidence for pseudogenes at the C4A locus and for gene conversion at the C4B locus

1 reference

https://api.crossref.org/works/10.1038%2FNG0393-260

7 January 2021

Evolution of human alpha 1-acid glycoprotein genes and surrounding Alu repeats

1 reference

https://api.crossref.org/works/10.1038%2FNG0393-260

7 January 2021

Gene conversion in the evolution of the human and chimpanzee MHC class I loci

1 reference

https://api.crossref.org/works/10.1038%2FNG0393-260

7 January 2021

Structure of human glutathione S-transferase class Mu genes

1 reference

https://api.crossref.org/works/10.1038%2FNG0393-260

7 January 2021

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

https://api.crossref.org/works/10.1038%2FNG0393-260

7 January 2021

Gene conversion-like events cause steroid 21-hydroxylase deficiency in congenital adrenal hyperplasia

1 reference

https://api.crossref.org/works/10.1038%2FNG0393-260

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0393-260

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0393-260

7 January 2021

Nonsense mutation causing steroid 21-hydroxylase deficiency

1 reference

https://api.crossref.org/works/10.1038%2FNG0393-260

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0393-260

7 January 2021

Avian B-cell development: generation of an immunoglobulin repertoire by gene conversion

1 reference

https://api.crossref.org/works/10.1038%2FNG0393-260

7 January 2021

Sexual preference of apparent gene conversion events in MHC genes of mice

1 reference

https://api.crossref.org/works/10.1038%2FNG0393-260

7 January 2021

Palindromic sequences are associated with sites of DNA breakage during gene conversion

1 reference

https://api.crossref.org/works/10.1038%2FNG0393-260

7 January 2021

Identifiers

DOI

10.1038/NG0393-260

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8485582%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

1 reference