Direct molecular diagnosis of CYP21 mutations in congenital adrenal hyperplasia (Q33677305)

28 July 2017

title

Direct molecular diagnosis of CYP21 mutations in congenital adrenal hyperplasia (English)

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congenital adrenal hyperplasia

28 July 2017

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H H Lee

1

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28 July 2017

H T Chao

series ordinal

2

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28 July 2017

H T Ng

series ordinal

3

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28 July 2017

K B Choo

series ordinal

4

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28 July 2017

language of work or name

English

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publication date

1 May 1996

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Journal of Medical Genetics

28 July 2017

published in

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28 July 2017

volume

33

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28 July 2017

issue

5

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28 July 2017

page(s)

371-375

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Prenatal diagnosis and treatment of 21-hydroxylase deficiency

28 July 2017

cites work

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050604

Molecular analysis of patient and carrier genes with congenital steroid 21-hydroxylase deficiency by using polymerase chain reaction and single strand conformation polymorphism

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050604

Recent Advances in 21-Hydroxylase Deficiency

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050604

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

28 July 2018

1 reference

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

28 July 2018

1 reference

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

28 July 2018

1 reference

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Structure of human steroid 21-hydroxylase genes

28 July 2018

1 reference

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

28 July 2018

1 reference

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Molecular and clinical advances in congenital adrenal hyperplasia

28 July 2018

1 reference

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Gene conversions, deletions, and polymorphisms in congenital adrenal hyperplasia

28 July 2018

1 reference

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Molecular characterization of the HLA-linked steroid 21-hydroxylase B gene from an individual with congenital adrenal hyperplasia

28 July 2018

1 reference

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Deletion of complement C4 and steroid 21-hydroxylase genes in the HLA class III region

28 July 2018

1 reference

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Evidence for frequent gene conversion in the steroid 21-hydroxylase P-450(C21) gene: implications for steroid 21-hydroxylase deficiency

28 July 2018

1 reference

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Modification of enzymatically amplified DNA for the detection of point mutations.

28 July 2018

1 reference

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A missense mutation at Ile172----Asn or Arg356----Trp causes steroid 21-hydroxylase deficiency.

28 July 2018

1 reference

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050604

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050604

Application of natural and amplification created restriction sites for the diagnosis of PKU mutations

28 July 2018

1 reference

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Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency

28 July 2018

1 reference

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Steroid 21-hydroxylase deficiency: three additional mutated alleles and establishment of phenotype-genotype relationships of common mutations

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050604

Prenatal diagnosis of 21-hydroxylase deficiency congenital adrenal hyperplasia using the polymerase chain reaction

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050604

21-hydroxylase deficiency congenital adrenal hyperplasia

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050604

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

30 October 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/8733045

12 December 2020

Rapid diagnosis of beta-thalassemia mutations in Chinese by naturally and amplified created restriction sites

1 reference

https://pubmed.ncbi.nlm.nih.gov/8733045

12 December 2020

Characterization of mutations on the rare duplicated C4/CYP21 haplotype in steroid 21-hydroxylase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/8733045

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8733045

12 December 2020

Identifiers

DOI

10.1136/JMG.33.5.371

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28 July 2017

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28 July 2017

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