(Q68111534)

English

Canadian Mennonites and individuals residing in the Friesland region of The Netherlands share the same molecular basis of 17 alpha-hydroxylase deficiency

scientific article published on 01 April 1992

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1577471%20AND%20SRC:MED&resulttype=core&format=json

21 September 2019

Canadian Mennonites and individuals residing in the Friesland region of The Netherlands share the same molecular basis of 17 alpha-hydroxylase deficiency (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1577471%20AND%20SRC:MED&resulttype=core&format=json

21 September 2019

congenital adrenal hyperplasia

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1577471

10 October 2022

author name string

T. Imai

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1577471

10 October 2022

T. Yanase

2

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1577471

10 October 2022

M. R. Waterman

3

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1577471

10 October 2022

E. R. Simpson

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1577471

10 October 2022

J. J. Pratt

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1577471

10 October 2022

language of work or name

1 reference

National Center for Biotechnology Information

PubMed publication ID

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1577471

10 October 2022

publication date

1 April 1992

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1577471%20AND%20SRC:MED&resulttype=core&format=json

21 September 2019

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1577471%20AND%20SRC:MED&resulttype=core&format=json

21 September 2019

89

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Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1577471%20AND%20SRC:MED&resulttype=core&format=json

21 September 2019

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1577471%20AND%20SRC:MED&resulttype=core&format=json

21 September 2019

95-96

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1577471%20AND%20SRC:MED&resulttype=core&format=json

21 September 2019

https://scigraph.springernature.com/pub.10.1007/bf00207050

0 references

Identification of a common molecular basis for combined 17 alpha-hydroxylase/17,20-lyase deficiency in two Mennonite families

1 reference

https://pubmed.ncbi.nlm.nih.gov/1577471

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

17-hydroxylation deficiency in man

1 reference

https://pubmed.ncbi.nlm.nih.gov/1577471

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1577471

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1577471

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Generation of single-stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus

1 reference

https://pubmed.ncbi.nlm.nih.gov/1577471

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

17 alpha-hydroxylase/17,20-lyase deficiency: from clinical investigation to molecular definition

1 reference

https://pubmed.ncbi.nlm.nih.gov/1577471

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Primary amenorrhoea with hypertension due to 17-hydroxylase deficiency. Therapy with dexamethasone and ethinyloestradiol

1 reference

https://pubmed.ncbi.nlm.nih.gov/1577471

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Combined 17-hydroxylase and 17,20-desmolase deficiencies: evidence for synthesis of a defective cytochrome P450c17.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1577471

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DNA sequencing with chain-terminating inhibitors

1 reference

https://pubmed.ncbi.nlm.nih.gov/1577471

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

1 reference

https://pubmed.ncbi.nlm.nih.gov/1577471

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Application of the polymerase chain reaction to the diagnosis of human genetic disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/1577471

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structural characterization of normal and mutant human steroid 17 alpha-hydroxylase genes: molecular basis of one example of combined 17 alpha-hydroxylase/17,20 lyase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/1577471

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Incomplete virilization and subclinical mineralocorticoid excess in a boy with partial 17,20-desmolase/17 alpha-hydroxylase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/1577471

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00207050

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1577471%20AND%20SRC:MED&resulttype=core&format=json

21 September 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1577471%20AND%20SRC:MED&resulttype=core&format=json

21 September 2019

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