(Q50563829)

15 March 2018

title

Steroid 21-hydroxylase deficiency: mutational spectrum in Denmark, three novel mutations, and in vitro expression analysis. (English)

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15 March 2018

0 references

3

N E Skakkebaek

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15 March 2018

G Ohlsson

1

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15 March 2018

J Müller

series ordinal

2

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15 March 2018

M Schwartz

series ordinal

4

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15 March 2018

publication date

1 January 1999

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15 March 2018

published in

Human Mutation

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15 March 2018

volume

13

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15 March 2018

issue

6

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15 March 2018

page(s)

482-486

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15 March 2018

A new technique for the assay of infectivity of human adenovirus 5 DNA

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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

21 January 2018

1 reference

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A simple salting out procedure for extracting DNA from human nucleated cells

21 January 2018

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Mutations in the gene encoding 21-hydroxylase detected by solid-phase minisequencing

21 January 2018

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Homologous sequences in steroidogenic enzymes, steroid receptors and a steroid binding protein suggest a consensus steroid-binding sequence

21 January 2018

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Genesis by meiotic unequal crossover of a de novo deletion that contributes to steroid 21-hydroxylase deficiency

21 January 2018

1 reference

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Molecular pathology of congenital adrenal hyperplasia

21 January 2018

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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Structure of human steroid 21-hydroxylase genes

21 January 2018

1 reference

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Biochemical transfer of single-copy eucaryotic genes using total cellular DNA as donor

21 January 2018

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Screening of CYP21 gene mutations in 129 French patients affected by steroid 21-hydroxylase deficiency

21 January 2018

1 reference

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A de novo pathological point mutation at the 21-hydroxylase locus: implications for gene conversion in the human genome

21 January 2018

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Analysis of steroid 21-hydroxylase gene mutations in the Spanish population

21 January 2018

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

21 January 2018

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

21 January 2018

1 reference

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Molecular pathology of 21-hydroxylase deficiency

21 January 2018

1 reference

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Analysis of mutations causing steroid 21-hydroxylase deficiency

21 January 2018

1 reference

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10.1002/(SICI)1098-1004(1999)13:6<482::AID-HUMU8>3.0.CO;2-0

21 January 2018

Identifiers

DOI

1 reference

15 March 2018

1 reference

15 March 2018