Novel CYP17A1 Mutation and CYP21 Mutations in Two Siblings

被引:0
|
作者
Isik, Emregul [1 ]
Keskin, Mehmet [2 ]
Yesilyurt, Ahmet [3 ]
机构
[1] Gaziantep Childrens Hosp, Pediat Endocrinol, Gaziantep, Turkey
[2] Gaziantep Univ, Fac Med, Pediat Endocrinol, Gaziantep, Turkey
[3] Diskapi Yildirim Beyazit Training & Res Hosp, Genet, Ankara, Turkey
来源
关键词
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
P2-P400
引用
收藏
页码:282 / 282
页数:1
相关论文
共 50 条
  • [1] Identification of a novel mutation in CYP17A1 gene
    Xue, Li-Qiong
    Han, Bing
    Chen, Li-Bo
    Pan, Chun-Ming
    Zhu, Hill
    Liu, Bing-Li
    Liu, Wei
    Wu, Wan-Ling
    Chen, Ming-Da
    Lu, Ying-Li
    Qiao, Jie
    Song, Huai-Dong
    [J]. TRANSLATIONAL RESEARCH, 2013, 161 (01) : 44 - 49
  • [2] Novel mutations in the human CYP21 gene
    Levo, A
    Partanen, J
    [J]. PRENATAL DIAGNOSIS, 2001, 21 (10) : 885 - 889
  • [3] Novel mutations in CYP21 detected in individuals with hyperandrogenism
    Lajic, S
    Clauin, S
    Robins, T
    Vexiau, P
    Blanché, H
    Bellanne-Chantelot, C
    Wedell, A
    [J]. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2002, 87 (06): : 2824 - 2829
  • [4] MUTATIONS IN STEROID 21-HYDROXYLASE (CYP21)
    WHITE, PC
    TUSIELUNA, MT
    NEW, MI
    SPEISER, PW
    [J]. HUMAN MUTATION, 1994, 3 (04) : 373 - 378
  • [5] P450C17 (CYP17) DEFICIENCY IN NATIVE MEXICAN PATIENT WITH A NOVEL CYP17A1 MUTATION
    Duran Perez, Edgar G.
    Gonzalez del Rincon, Lourdes
    Moreno Loza, Oscar T.
    Martin de Saro, Monica D.
    Segovia Palomo, Antonio
    Sanchez Pedraza, Valentin
    Kofman Alfaro, Susana
    Queipo Garcia, Gloria E.
    [J]. ENDOCRINE PRACTICE, 2011, 17 (01) : 99 - 103
  • [6] CYP21 mutations and congenital adrenal hyperplasia
    Lee, HH
    [J]. CLINICAL GENETICS, 2001, 59 (05) : 293 - 301
  • [7] CYP17A1 and CYP21A2, enzymology and their human deficiency states
    Auchus, Richard J.
    [J]. DRUG METABOLISM REVIEWS, 2011, 43 : 9 - 10
  • [8] Hyperandrogenism in carriers of CYP21 mutations: the role of genotype
    Admoni, Osnat
    Israel, Shosh
    Lavi, Idit
    Gur, Michal
    Tenenbaurn-Rakover, Yardena
    [J]. CLINICAL ENDOCRINOLOGY, 2006, 64 (06) : 645 - 651
  • [9] 17α-Hydroxylase Deficiency Diagnosed in Early Infancy Caused by a Novel Mutation of the CYP17A1 Gene
    Petri, Christina
    Wudy, Stefan A.
    Riepe, Felix G.
    Holterhus, Paul-Martin
    Siegel, Jens
    Hartmann, Michaela F.
    Kulle, Alexandra E.
    Welzel, Maik
    Groetzinger, Joachim
    Schild, Ralf L.
    Heger, Sabine
    [J]. HORMONE RESEARCH IN PAEDIATRICS, 2014, 81 (05): : 350 - 355
  • [10] Two cases of 17α-hydroxylase/17,20-Iyase deficiency caused by the CYP17A1 mutation
    Lee, Hae In
    Kwon, Ahreum
    Suh, Jung Hwan
    Choi, Han Saem
    Song, Kyung Chul
    Chae, Hyun Wook
    Kim, Ho-Seong
    [J]. ANNALS OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2021, 26 (01) : 66 - 70