首页> 外文OA文献 >Late diagnosis of complete androgen insensitivity syndrome and transmission/carriers of the condition in a family with mutation c.2495G T p.(Arg832Leu) in exon 7 of the androgen receptor gene: genetic, clinical and ethical aspects

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Late diagnosis of complete androgen insensitivity syndrome and transmission/carriers of the condition in a family with mutation c.2495G T p.(Arg832Leu) in exon 7 of the androgen receptor gene: genetic, clinical and ethical aspects

机译：患有突变C.2495G> T p。（Arc832Leu）在雄激素受体基因的外显子7中的完全雄激素不敏感综合征和传播/载体的延迟诊断：遗传，临床和伦理方面

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Renata Pomahacova; Jana Zamboryova; Petra Paterova; Anna Krepelova; Ivan Subrt; Radka Jaklova; Petra Vohradska; Eliska Hrdonkova; Josef Sykora;
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1. Severe forms of complete androgen insensitivity syndrome caused by a p.Q65X novel mutation in androgen receptor: Clinical manifestations, imaging findings and molecular genetics [J] . Liu Shu, Wang Zhiqing, Jiang Jianhui, Steroids: An International Journal . 2019,第期

机译：由雄激素受体的P.Q65x新突变引起的全形式雄激素不敏感综合征：临床表现，成像结果和分子遗传学
2. Complete androgen insensitivity syndrome is frequently due to premature stop codons in exon 1 of the androgen receptor gene: an international collaborative report of 13 new mutations. [J] . Philibert P, Audran F, Pienkowski C, Fertility and Sterility: Official Journal of the American Fertility Society, Pacific Coast Fertility Society, and the Canadian Fertility and Andrology Society . 2010,第2期

机译：完全的雄激素不敏感综合症通常是由于雄激素受体基因第1外显子的过早终止密码子引起的：国际合作报告，涉及13个新突变。
3. Identification of a critical novel mutation in the exon 1 of androgen receptor gene in 2 brothers with complete androgen insensitivity syndrome. [J] . Radpour R, Falah M, Aslani A, Journal of Andrology . 2009,第3期

机译：2个完全雄激素不敏感综合症兄弟中雄激素受体基因第1外显子中一个关键的新突变的鉴定。
4. Sequence of the intron/exon junctions of the coding region of the human androgen receptor gene and identification of a point mutation in a family with complete androgen insensitivity [O] . 1990

机译：雄激素受体基因编码区内含子/外显子连接的序列以及对雄激素完全不敏感的家庭的点突变的鉴定
5. Sequence of the intron/exon junctions of the coding region of the human androgen receptor gene and identification of a point mutation in a family with complete androgen insensitivity. [O] . Lubahn, D B, Brown, T R, Simental, J A, 1989

机译：人类雄激素受体基因编码区内含子/外显子连接的序列，以及对完全雄激素不敏感的家族中的点突变的鉴定。

Late diagnosis of complete androgen insensitivity syndrome and transmission/carriers of the condition in a family with mutation c.2495G T p.(Arg832Leu) in exon 7 of the androgen receptor gene: genetic, clinical and ethical aspects

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