In vitro functional studies of rare CYP21A2 mutations and establishment of an activity gradient for nonclassic mutations improve phenotype predictions in congenital adrenal hyperplasia

Barbaro Michela; Soardi Fernanda C.; Ostberg Linus J.; Persson Bengt; de Mello Maricilda Palandi; Wedell Anna; Lajic Svetlana

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In vitro functional studies of rare CYP21A2 mutations and establishment of an activity gradient for nonclassic mutations improve phenotype predictions in congenital adrenal hyperplasia

机译：稀有CYP21A2突变的体外功能研究以及非溴突变的活性梯度的建立，提高了先天性增生中的表型预测

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BackgroundA detailed genotype-phenotype evaluation is presented by studying the enzyme activities of five rare amino acid substitutions (Arg233Gly, Ala265Ser, Arg341Trp, Arg366Cys and Met473Ile) identified in the CYP21A2 gene in patients investigated for Congenital adrenal hyperplasia (CAH).

机译：背景，通过研究CYP21A2基因中鉴定的五种稀有氨基酸取代（ARG233，ALA265SER，ARG341TRP，ARAG36636CYS和MET47371010）的患者研究了先天性肾上腺增生（CAH），通过研究CYP21A2基因中鉴定的酶活性进行详细的基因型 - 表型评价。

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《Clinical Endocrinology》 |2015年第1期|共8页
作者
Barbaro Michela; Soardi Fernanda C.; Ostberg Linus J.; Persson Bengt; de Mello Maricilda Palandi; Wedell Anna; Lajic Svetlana;
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作者单位

Karolinska Inst Dept Mol Med &

Surg S-17176 Stockholm Sweden;

Univ Estadual Campinas Ctr Biol Mol &

Engn Genet Lab Genet Mol Humana Campinas SP Brazil;

Karolinska Inst Sci Life Lab Dept Med Biochem &

Biophys S-17176 Stockholm Sweden;

Uppsala Univ Dept Cell &

Mol Biol Sci Life Lab Uppsala Sweden;

Univ Estadual Campinas Ctr Biol Mol &

Engn Genet Lab Genet Mol Humana Campinas SP Brazil;

Karolinska Inst Dept Mol Med &

Surg S-17176 Stockholm Sweden;

Karolinska Inst Dept Womens &

Childrens Hlth S-17176 Stockholm Sweden;

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正文语种 eng
中图分类内分泌腺疾病及代谢病;
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1. In vitro functional studies of rare CYP21A2 mutations and establishment of an activity gradient for nonclassic mutations improve phenotype predictions in congenital adrenal hyperplasia [J] . Barbaro Michela, Soardi Fernanda C., Ostberg Linus J., Clinical Endocrinology . 2015,第1期

机译：罕有CYP21A2突变的体外功能研究和非经典突变的活性梯度的建立改善了先天性肾上腺皮质增生的表型预测
2. Identification and functional characterization of a novel mutation P459H and a rare mutation R483W in the CYP21A2 gene in two Chinese patients with simple virilizing formof congenital adrenal hyperplasia [J] . JiangL., SongL.L., WangH., Journal of Endocrinological Investigation: Official Journal of the Italian Society of Endocrinology . 2012,第5期

机译：CYP21A2基因CYP21A2基因新突变P459H和罕见突变R483W的鉴定和功能表征
3. Functional analysis of two rare CYP21A2 mutations detected in Italian patients with a mildest form of congenital adrenal hyperplasia. [J] . Concolino P, Vendittelli F, Mello E Clinical Endocrinology . 2009,第4期

机译：在患有轻度先天性肾上腺增生的意大利患者中检测到的两个罕见的CYP21A2突变的功能分析。
4. Functional studies of rare CFTR missense mutations facilitate interpretation of genotype-phenotype relationships. [D] . Krasnov, Kristina V. 2009

机译：罕见CFTR错义突变的功能研究有助于解释基因型与表型的关系。
5. A rare CYP21A2 mutation in a congenital adrenal hyperplasia kindred displaying genotype–phenotype non-concordance [O] . Ahmed Khattab, Tony Yuen, Sultan Almalki, -1

机译：先天性肾上腺增生中一种罕见的CYP21A2突变表现出基因型-表型不一致
6. Functional studies of novel CYP21A2 mutations detected in Norwegian patients with congenital adrenal hyperplasia [O] . Brønstad, Ingeborg, Breivik, Lars Ertesvåg, Methlie, Paal, 2014

机译：在挪威患有先天性肾上腺增生的患者中检测到新的CYp21a2突变的功能研究

In vitro functional studies of rare CYP21A2 mutations and establishment of an activity gradient for nonclassic mutations improve phenotype predictions in congenital adrenal hyperplasia

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