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知网期刊论文(16)
在“
Elsevier电子期刊
”中,
命中:
22
条,耗时:小于0.01 秒
在所有数据库中总计命中:
20
条
1.
21-Hydroxylase deficiency-induced congenital adrenal hyperplasia in 230 Chinese patients: Genotype-phenotype correlation and identification of nine novel mutations
作者:
Ruifang Wang
1
;
Yongguo Yu
1
;
Jun Ye
;
Lianshu Han
;
Wenjuan Qiu
;
Huiwen Zhang
;
Lili Liang
;
Zhuwen Gong
;
Lili Wang
;
Xuefan Gu
;
gu_xuefan@163.com" class="auth_mail" title="E-mail the corresponding author
关键词:
CAH
;
congenital adrenal hyperplasia
;
21-OHD
;
21-hydroxylase deficiency
;
CYP21A
2
;
cytochrome P450
;
family 21
;
subfamily A
;
polypeptide 2
;
MLPA
;
multiplex ligation-dependent probe amplification
;
SW
;
salt-wasting
;
SV
;
simple virilizing
;
NC
;
nonclassical
;
CYP21A1P
;
cytochrome P450
;
family 21
;
subfamily A
;
polypeptide 1 pseudogene
;
HGMD
;
Human Gene Mutation database
;
17-OHP
;
17-hydroxyprogesterone
;
I2G
;
the intron 2 splice site mutation
;
ppv
;
positive predictive value
;
Del
;
large gene deletions
;
ACTH
刊名:Steroids
出版年:2016
2.
Variants of the
CYP21A
2 and CYP2
1A1P
genes in congenital adrenal hyperplasia
作者:
Hsien-Hsiung Lee
;
hhlee@mail.cmu.edu.tw
;
leehsienhsiung@gmail.com
关键词:
P450c21
;
CYP21A1P
;
CYP21A
2
;
RCCX module
;
CAH
刊名:Clinica Chimica Acta
出版年:2013
3.
Analysis of
CYP21A1P
and the duplicated CYP21A2 genes
作者:
Li-Ping Tsai
;
Hsien-Hsiung Lee
关键词:
MHC
;
major histocompatibility complex
;
C4
;
fourth complement component
;
RCCX
;
RP1&ndash
;
C4&ndash
;
CYP21A1P
&ndash
;
TNXA&ndash
;
RP2&ndash
;
C4&ndash
;
CYP21A
2&ndash
;
TNXB
;
RP
;
serine/threonine nuclear protein kinase
;
TNXA
;
tenascin TNXA
;
TNXB
;
tenascin TNXB
;
MLPA
刊名:Gene
出版年:2012
4.
Analysis of the
CYP21A1P
pseudogene: Indication of mutational diversity and CYP21A2-like and duplicated CYP21A2 genes
作者:
Li-Ping Tsai
a
;
b
;
Ching-Feng Cheng
c
;
d
;
Shu-Hua Chuang
a
;
Hsien-Hsiung Lee
a
;
e
;
hhlee@mail.cmu.edu.tw"" rel=""nofollow
;
leehsienhsiung@gmail.com"" rel=""nofollow
关键词:
CYP21A1P
;
XA
;
CYP21A
2
-like gene
;
Duplicated
CYP21A
2
genes
;
PCR-based amplification
;
Mutational detection
刊名:Analytical Biochemistry
出版年:2011
5.
Molecular analysis of the
CYP21A
2 gene in Chinese patients with steroid 21-hydroxylase deficiency
作者:
Dingyuan Ma
1
;
Yulin Chen
1
;
Yun Sun
1
;
Bing Yang
;
Jian Cheng
;
Meilian Huang
;
Jin Zhang
;
Jingjing Zhang
;
Ping Hu
;
Ying Lin
;
Tao Jiang
;
jiangzhang784@163.com" class="auth_mail
;
Zhengfeng Xu
;
njxzf@126.com" class="auth_mail
关键词:
Congenital adrenal hyperplasia
;
21-Hydroxylase deficiency
;
CYP21A
2
;
Mutation
刊名:Clinical Biochemistry
出版年:April, 2014
6.
Genes, pseudogenes and like genes: The case of 21-hydroxylase in Italian population
作者:
Paola Concolino
;
Enrica Mello
;
Angelo Minucci
;
Bruno Giardina
;
Ettore Capoluongo
关键词:
CYP21A
2
;
like-gene
;
CYP21A1P
;
Molecular diagnosis
;
21-hydroxylase deficiency
刊名:Clinica Chimica Acta
出版年:2013
7.
High-resolution melting curve (HRM) analysis to establish
CYP21A
2 mutations converted from the CYP2
1A1P
in congenital adrenal hyperplasia
作者:
Yi-Ching Lin
a
;
b
;
Yu-Chih Lin
c
;
Ta-Chih Liu
a
;
b
;
d
;
Jan-Gowth Chang
a
;
b
;
e
;
f
;
jgchang@ms.kmuh.org.tw"" rel=""nofollow
;
Hsien-Hsiung Lee
g
;
hhlee@mail.cmu.edu.tw"" rel=""nofollow
;
leehsienhsiung@gmail.com"" rel=""nofollow
关键词:
CYP21A
2
;
CAH
;
HRM
;
PCR-based amplification
;
Mutational detection
刊名:Clinica Chimica Acta
出版年:2011
8.
Investigation of
CYP21A
2 mutations in Turkish patients with 21-hydroxylase deficiency and a novel founder mutation
作者:
Bayram Toraman
a
;
bayramtoraman@yahoo.com
;
Ay?enur Ö
;
kten
b
;
Ersan Kalay
c
;
Gü
;
lay Karagü
;
zel
b
;
Tuba Dinç
;
er
c
;
Emel Gü
;
l Aç
;
?kgö
;
z
b
;
Ahmet Karagü
;
zel
c
关键词:
CAH
;
congenital adrenal hyperplasia
;
21OH
;
21-hydroxylase enzyme
;
NC
;
non classical form
;
SV
;
simple virilizing form
;
SW
;
salt-wasting form
;
17OHP
;
17-hydroxyprogesterone
;
21OHD
;
steroid 21-hydroxylase deficiency
;
ACRS
;
amplification-created restriction s
刊名:Gene
出版年:2013
9.
Chimeric
CYP21A1P
/CYP21A2 genes identified in Czech patients with congenital adrenal hyperplasia
作者:
Zuzana Vrzalová
;
a
;
Zuzana Hrubá
;
a
;
Eva Sť
;
ahlová
;
Hrabincová
;
a
;
Slá
;
vka Vrá
;
belová
;
a
;
Felix Votava
b
;
Stanislava Kolouš
;
ková
;
c
;
Lenka Fajkusová
;
a
;
d
;
lenkafajkusova@volny.cz
关键词:
Congenital adrenal hyperplasia
;
Steroid 21-hydroxylase gene
;
21-Hydroxylase deficiency
;
Chimeric gene
刊名:European Journal of Medical Genetics
出版年:2011
10.
Impact of Genome Complexity of the
CYP21A
2 Gene on Adrenal Steroidogenesis
作者:
Shwu-Fen Chang
;
cmbsfc21@tmu.edu.tw
关键词:
adrenal steroidogenesis
;
congenital adrenal hyperplasia
;
cytochrome P450 enzymes
;
pseudogene
CYP21A1P
刊名:Journal of Experimental & Clinical Medicine
出版年:2012
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