(Q37588678)

21 August 2017

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title

Molecular pathology of congenital adrenal hyperplasia (English)

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21 August 2017

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Strachan T

1

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21 August 2017

publication date

1 March 1990

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21 August 2017

published in

Clinical Endocrinology

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21 August 2017

volume

32

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21 August 2017

issue

3

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21 August 2017

page(s)

373-393

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

21 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.1990.TB00878.X

Polymorphism of human complement component C4.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.1990.TB00878.X

DNA methylation and the frequency of CpG in animal DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.1990.TB00878.X

Mapping of steroid 21-hydroxylase genes adjacent to complement component C4 genes in HLA, the major histocompatibility complex in man.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.1990.TB00878.X

Molecular mapping of the human major histocompatibility complex by pulsed-field gel electrophoresis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.1990.TB00878.X

Direct observation of the gene organization of the complement C4 and 21-hydroxylase loci by pulsed field gel electrophoresis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.1990.TB00878.X

Close genetic linkage between HLA and congenital adrenal hyperplasia (21-hydroxylase deficiency).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.1990.TB00878.X

HLA-A,B,C,DR typing and 17-OHP determination for second trimester prenatal diagnosis of 21-hydroxylase deficient CAH.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.1990.TB00878.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.1990.TB00878.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.1990.TB00878.X

Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: a pseudogene and a genuine gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.1990.TB00878.X

Prevalence of polymorphic 21-hydroxylase gene (CA21HB) mutations in salt-losing congenital adrenal hyperplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.1990.TB00878.X

P450XXI (steroid 21-hydroxylase) gene deletions are not found in family studies of congenital adrenal hyperplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.1990.TB00878.X

Molecular and clinical advances in congenital adrenal hyperplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.1990.TB00878.X

Heterogeneity of human C4 gene size. A large intron (6.5 kb) is present in all C4A genes and some C4B genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.1990.TB00878.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.1990.TB00878.X

Extensive deletions and insertions in different MHC supratypes detected by pusled field gel electrophoresis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.1990.TB00878.X

HLA-linked congenital adrenal hyperplasia results from a defective gene encoding a cytochrome P-450 specific for steroid 21-hydroxylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.1990.TB00878.X

Two genes encoding steroid 21-hydroxylase are located near the genes encoding the fourth component of complement in man

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.1990.TB00878.X

Structure of human steroid 21-hydroxylase genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.1990.TB00878.X

Characterization of frequent deletions causing steroid 21-hydroxylase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.1990.TB00878.X

10.1111/J.1365-2265.1990.TB00878.X

21 January 2018

Identifiers

DOI

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21 August 2017

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