Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency (Q24619813)

congenital adrenal hyperplasia

inferred from title

1 reference

1 reference

Maria I New

1

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Moolamannil Abraham

2

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Brian Gonzalez

3

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Miroslav Dumic

4

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Maryam Razzaghy-Azar

5

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David Chitayat

6

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Li Sun

7

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Mone Zaidi

8

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Robert C Wilson

9

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Tony Yuen

Proceedings of the National Academy of Sciences of the United States of America

10

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language of work or name

English

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publication date

12 February 2013

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published in

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volume

110

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page(s)

2611-6

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issue

7

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Phenotype-genotype correlations of 13 rare CYP21A2 mutations detected in 46 patients affected with 21-hydroxylase deficiency and in one carrier

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Duplications of the functional CYP21A2 gene are primarily restricted to Q318X alleles: evidence for a founder effect

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Erroneous prenatal diagnosis of congenital adrenal hyperplasia owing to a duplication of the CYP21A2 gene

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CYP21 Gene Mutation Analysis in 198 Patients with 21-Hydroxylase Deficiency in The Netherlands: Six Novel Mutations and a Specific Cluster of Four Mutations

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Microconversion betweenCYP21A2andCYP21A1PPromoter Regions Causes the Nonclassical Form of 21-Hydroxylase Deficiency

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A sequence variation in 3'UTR of CYP21A2 gene correlates with a mild form of congenital adrenal hyperplasia

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Predicting phenotype in steroid 21-hydroxylase deficiency? Comprehensive genotyping in 155 unrelated, well defined patients from southern Germany

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12 December 2020

Duplication of the CYP21A2 gene complicates mutation analysis of steroid 21-hydroxylase deficiency: characteristics of three unusual haplotypes

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12 December 2020

A novel semiquantitative polymerase chain reaction/enzyme digestion-based method for detection of large scale deletions/conversions of the CYP21 gene and mutation screening in Turkish families with 21-hydroxylase deficiency

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

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12 December 2020

Steroid 21-hydroxylase deficiency: genotype may not predict phenotype

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12 December 2020

The common I172N mutation causes conformational change of cytochrome P450c21 revealed by systematic mutation, kinetic, and structural studies

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12 December 2020

A cluster of missense mutations at Arg356 of human steroid 21-hydroxylase may impair redox partner interaction

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12 December 2020

Naturally occurring mutants of human steroid 21-hydroxylase (P450c21) pinpoint residues important for enzyme activity and stability

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12 December 2020

Congenital adrenal hyperplasia (21-hydroxylase deficiency) without demonstrable genetic mutations

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12 December 2020

High variability in CYP21A2 mutated alleles in Spanish 21-hydroxylase deficiency patients, six novel mutations and a founder effect

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12 December 2020

Molecular defects of the CYP21A2 gene in Greek-Cypriot patients with congenital adrenal hyperplasia

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12 December 2020

Identifiers

DOI

10.1073/PNAS.1300057110

1 reference

4606773

ADS bibcode

2013PNAS..110.2611N

0 references

4606773

1 reference

1 reference

1 reference