Missense mutation serine106—-proline causes 17 alpha-hydroxylase deficiency (Q46441350)

22 December 2017

reason for preferred rank

title

Missense mutation serine106—-proline causes 17 alpha-hydroxylase deficiency (English)

1 reference

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6 November 2022

Missense mutation serine106----proline causes 17 alpha-hydroxylase deficiency (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:1714904

congenital adrenal hyperplasia

6 November 2022

main subject

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6 November 2022

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6 November 2022

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6 November 2022

author name string

D. Lin

1

1 reference

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6 November 2022

J. A. Harikrishna

2

1 reference

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6 November 2022

C. C. Moore

3

1 reference

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6 November 2022

K. L. Jones

4

1 reference

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6 November 2022

W. L. Miller

5

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6 November 2022

language of work or name

English

0 references

publication date

1 August 1991

1 reference

22 December 2017

25 August 1991

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1714904

full work available at URL

6 November 2022

http://intl.jbc.org/cgi/content/abstract/266/24/15992

online access status

open access

1 reference

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https://api.elsevier.com/content/article/PII:S0021925818985066?httpAccept=text/xml

6 November 2022

1 reference

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https://api.elsevier.com/content/article/PII:S0021925818985066?httpAccept=text/plain

6 November 2022

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(18)98506-6

Journal of Biological Chemistry

6 November 2022

published in

1 reference

22 December 2017

volume

266

1 reference

22 December 2017

issue

24

1 reference

22 December 2017

page(s)

15992-15998

1 reference

22 December 2017

The P450 superfamily: update on new sequences, gene mapping, and recommended nomenclature

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6 November 2022

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Developmental expression of genes for the stereoidogenic enzymes P450scc (20,22-desmolase), P450c17 (17 alpha-hydroxylase/17,20-lyase), and P450c21 (21-hydroxylase) in the human fetus.

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Assignment of the gene for adrenal P450c17 (steroid 17 alpha-hydroxylase/17,20 lyase) to human chromosome 10.

6 November 2022

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Regional mapping of genes encoding human steroidogenic enzymes: P450scc to 15q23-q24, adrenodoxin to 11q22; adrenodoxin reductase to 17q24-q25; and P450c17 to 10q24-q25

6 November 2022

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

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Gene conversions and rearrangements cause discordance between inheritance of forms of 21-hydroxylase deficiency and HLA types

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An efficient chloramphenicol-resistance marker for Saccharomyces cerevisiae and Escherichia coli

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Human Proopiomelanocortin-(79–96), a Proposed Androgen Stimulatory Hormone, Does not Affect Steroidogenesis in Cultured Human Fetal Adrenal Cells*

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6 November 2022

Identifiers

1 reference

22 December 2017