Diversity of the CYP21A2 gene: a 6.2-kb TaqI fragment and a 3.2-kb TaqI fragment mistaken as CYP21A1P. (Q54602584)

1 June 2018

http://europepmc.org/abstract/MED/16684614

title

Diversity of the CYP21A2 gene: a 6.2-kb TaqI fragment and a 3.2-kb TaqI fragment mistaken as CYP21A1P. (English)

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1 June 2018

http://europepmc.org/abstract/MED/16684614

author name string

Hsien-Hsiung Lee

1

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1 June 2018

http://europepmc.org/abstract/MED/16684614

Fuu-Jen Tsai

2

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http://europepmc.org/abstract/MED/16684614

Yann-Jinn Lee

3

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http://europepmc.org/abstract/MED/16684614

Yuh-Cheng Yang

4

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1 June 2018

http://europepmc.org/abstract/MED/16684614

publication date

8 May 2006

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1 June 2018

http://europepmc.org/abstract/MED/16684614

published in

Molecular Genetics and Metabolism

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1 June 2018

http://europepmc.org/abstract/MED/16684614

volume

88

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1 June 2018

http://europepmc.org/abstract/MED/16684614

issue

4

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http://europepmc.org/abstract/MED/16684614

page(s)

372-377

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http://europepmc.org/abstract/MED/16684614

cites work

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Chimeric CYP21P/CYP21 and TNXA/TNXB genes in the RCCX module

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Carriership of a defective tenascin-X gene in steroid 21-hydroxylase deficiency patients: TNXB -TNXA hybrids in apparent large-scale gene conversions

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A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency

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Modular variations of the human major histocompatibility complex class III genes for serine/threonine kinase RP, complement component C4, steroid 21-hydroxylase CYP21, and tenascin TNX (the RCCX module). A mechanism for gene deletions and disease as

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CYP21 mutations and congenital adrenal hyperplasia

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Use of PCR-based amplification analysis as a substitute for the southern blot method for CYP21 deletion detection in congenital adrenal hyperplasia

7 January 2021

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Characterization of frequent deletions causing steroid 21-hydroxylase deficiency

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PCR-based detection of the CYP21 deletion and TNXA/TNXB hybrid in the RCCX module

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Mutation of IVS2 -12A/C>G in combination with 707-714delGAGACTAC in the CYP21 gene is caused by deletion of the C4-CYP21 repeat module with steroid 21-hydroxylase deficiency

7 January 2021

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

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Direct molecular diagnosis of CYP21 mutations in congenital adrenal hyperplasia

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Follow-up of 68 children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: relevance of genotype for management

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Difference in transcriptional activity of two homologous CYP21A genes

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Diversity of the CYP21P-like gene in CYP21 deficiency

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7 January 2021

Identifiers

DOI

1 reference

1 June 2018

http://europepmc.org/abstract/MED/16684614

1 reference

1 June 2018