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CYP21A1P gene
Known as:
cytochrome P450 family 21 subfamily A member 1, pseudogene
, CYP21A1P
, P450c21A
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National Institutes of Health
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Related topics
Related topics
1 relation
CYP21A2 protein, human
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
[Analysis of copy number variation of CYP21A2 gene and the type of CYP21A1P/CYP21A2 fused gene in patients with 21-hydroxylase deficiency].
Y. Gao
,
B. Yu
,
+6 authors
M. Nie
Zhonghua yi xue za zhi
2019
Corpus ID: 209474770
Objective: To analyze the copy number variation of CYP21A2 gene in 21-hydroxylase deficiency (21-OHD) patients, and identify the…
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2015
2015
Molecular genetic study of congenital adrenal hyperplasia in Serbia: novel p.Leu129Pro and p.Ser165Pro CYP21A2 gene mutations
I. Milacic
,
M. Barać
,
+10 authors
M. Stojiljkovic
Journal of Endocrinological Investigation
2015
Corpus ID: 28418850
AbstractPurposeCongenital adrenal hyperplasia (CAH) is an autosomal recessive disease characterized by impaired adrenal…
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2014
2014
Lack of genotypephenotype correlation in congenital adrenal hyperplasia due to a CYP21A2-like gene.
Angelica Leccese
,
Vittoria A C Longo
,
+6 authors
R. Santacroce
Clinica chimica acta; international journal of…
2014
Corpus ID: 6743927
2012
2012
p.H282N and p.Y191H: 2 novel CYP21A2 mutations in Italian congenital adrenal hyperplasia patients.
P. Concolino
,
Enrica Mello
,
M. Patrosso
,
S. Penco
,
C. Zuppi
,
E. Capoluongo
Metabolism: Clinical and Experimental
2012
Corpus ID: 26753913
2012
2012
Analysis of CYP21A1P and the duplicated CYP21A2 genes.
L. Tsai
,
Hsien-Hsiung Lee
Gene
2012
Corpus ID: 29997997
2011
2011
High-resolution melting curve (HRM) analysis to establish CYP21A2 mutations converted from the CYP21A1P in congenital adrenal hyperplasia.
Yi‐Ching Lin
,
Yu-Chih Lin
,
Ta‐Chih Liu
,
Jan-Gowth Chang
,
Hsien-Hsiung Lee
Clinica chimica acta; international journal of…
2011
Corpus ID: 30881322
2011
2011
Analysis of the CYP21A2 gene with intergenic recombination and multiple gene deletions in the RCCX module.
Shwu-Fen Chang
,
Hsien-Hsiung Lee
Genetic Testing and Molecular Biomarkers
2011
Corpus ID: 20968627
The most frequent bimodular RCCX module of the RP1-C4A-CYP21A1P-TNXA-RP2-C4B-CYP21A2-TNXB gene sequence is located on chromosome…
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2009
2009
Genotyping of CYP21A2 for Congenital Adrenal Hyperplasia Screening using Allele-Specific Primer Extension followed by Bead Array Hybridization
Y. Oh
,
Sung Won Park
,
+5 authors
B. Han
Molecular Diagnosis & Therapy
2009
Corpus ID: 19274798
AbstractBackground: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease caused by mutations in the CYP21A2…
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2009
2009
A new CYP21A2 nonsense mutation causing severe 21-hydroxylase deficiency
P. Concolino
,
A. Minucci
,
Enrica Mello
,
C. Zuppi
,
E. Capoluongo
Clinical Chemistry and Laboratory Medicine
2009
Corpus ID: 31831677
Abstract Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder caused primarily by defects in the steroid 21…
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Review
2003
Review
2003
Mapping of a de novo unequal crossover causing a deletion of the steroid 21-hydroxylase (CYP21A2) gene and a non-functional hybrid tenascin-X (TNXB) gene
P. Koppens
,
H. Smeets
,
I. Wijs
,
H. Degenhart
Journal of Medical Genetics
2003
Corpus ID: 7349045
In the human genome, the major histocompatibility complex class III region on chromosome 6p21.3 stands out as an area of…
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