21-Hydroxylase deficiency-induced congenital adrenal hyperplasia in 230 Chinese patients: Genotype-phenotype correlation and identification of nine novel mutations
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- 作者：Ruifang Wang1 ; Yongguo Yu1 ; 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 ; 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
- 刊名：Steroids
- 出版年：2016
- 出版时间：April 2016
- 年：2016
- 卷：108
- 期：Complete
- 页码：47-55
- 全文大小：1314 K
文摘
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The first large cohort of CYP21A2 gene mutations in 230 Chinese patients.
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Identification of nine novel mutations of CYP21A2 gene and prediction of their effects.
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Genotype and phenotype correlation to provide more evidence for clinical diagnosis.