21-Hydroxylase deficiency-induced congenital adrenal hyperplasia in 230 Chinese patients: Genotype–phenotype correlation and identification of nine novel mutations (Englisch)
- Neue Suche nach: Wang, Ruifang
- Neue Suche nach: Yu, Yongguo
- Neue Suche nach: Ye, Jun
- Neue Suche nach: Han, Lianshu
- Neue Suche nach: Qiu, Wenjuan
- Neue Suche nach: Zhang, Huiwen
- Neue Suche nach: Liang, Lili
- Neue Suche nach: Gong, Zhuwen
- Neue Suche nach: Wang, Lili
- Neue Suche nach: Gu, Xuefan
- Neue Suche nach: Wang, Ruifang
- Neue Suche nach: Yu, Yongguo
- Neue Suche nach: Ye, Jun
- Neue Suche nach: Han, Lianshu
- Neue Suche nach: Qiu, Wenjuan
- Neue Suche nach: Zhang, Huiwen
- Neue Suche nach: Liang, Lili
- Neue Suche nach: Gong, Zhuwen
- Neue Suche nach: Wang, Lili
- Neue Suche nach: Gu, Xuefan
In:
Steroids
;
108
;
47-55
;
2016
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ISSN:
- Aufsatz (Zeitschrift) / Elektronische Ressource
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Titel:21-Hydroxylase deficiency-induced congenital adrenal hyperplasia in 230 Chinese patients: Genotype–phenotype correlation and identification of nine novel mutations
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Beteiligte:Wang, Ruifang ( Autor:in ) / Yu, Yongguo ( Autor:in ) / Ye, Jun ( Autor:in ) / Han, Lianshu ( Autor:in ) / Qiu, Wenjuan ( Autor:in ) / Zhang, Huiwen ( Autor:in ) / Liang, Lili ( Autor:in ) / Gong, Zhuwen ( Autor:in ) / Wang, Lili ( Autor:in ) / Gu, Xuefan ( Autor:in )
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Erschienen in:Steroids ; 108 ; 47-55
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Verlag:
- Neue Suche nach: Elsevier Inc.
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Erscheinungsdatum:14.01.2016
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Format / Umfang:9 pages
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ISSN:
-
DOI:
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Medientyp:Aufsatz (Zeitschrift)
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Format:Elektronische Ressource
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Sprache:Englisch
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Schlagwörter:CAH , congenital adrenal hyperplasia , 21-OHD , 21-hydroxylase deficiency , CYP21A2 , 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 , adrenocorticotropic hormone , T , testosterone , Congenital adrenal hyperplasia , 21-Hydroxylase deficiency , CYP21A2 gene , Mutational spectrum , Genotype–phenotype correlation
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Datenquelle:
Inhaltsverzeichnis – Band 108
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