(Q44170288)

30 November 2017

title

Genotype of Yupik Eskimos with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1551668

congenital adrenal hyperplasia due to 21-hydroxylase deficiency

8 October 2022

main subject

0 references

congenital adrenal hyperplasia

1 reference

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8 October 2022

author name string

P. W. Speiser

1

1 reference

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8 October 2022

M. I. New

2

1 reference

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8 October 2022

G. M. Tannin

3

1 reference

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8 October 2022

D. Pickering

4

1 reference

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8 October 2022

S. Y. Yang

5

1 reference

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8 October 2022

P. C. White

6

1 reference

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8 October 2022

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1551668

8 October 2022

publication date

1 March 1992

1 reference

30 November 2017

1 reference

30 November 2017

volume

88

1 reference

30 November 2017

issue

6

1 reference

30 November 2017

page(s)

647-648

1 reference

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

30 November 2017

cites work

1 reference

12 December 2020

An unusually high incidence of salt-losing congenital adrenal hyperplasia in the Alaskan Eskimo

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

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

Distribution of deletions and seven point mutations on CYP21B genes in three clinical forms of steroid 21-hydroxylase deficiency

1 reference

12 December 2020

Characterization of frequent deletions causing steroid 21-hydroxylase deficiency

1 reference

12 December 2020

Molecular pathology of congenital adrenal hyperplasia

1 reference

12 December 2020

A pilot newborn screening for congenital adrenal hyperplasia in Alaska

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF02265290

1 reference

30 November 2017

1 reference