A New SPINK5 Mutation in a Patient with Netherton Syndrome: A Case Report.

Maria G Alpigiani; Pietro Salvati; Maria Cristina Schiaffino; Corrado Occella; Daniela Castiglia; Claudia Covaciu; Renata Lorini

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A New SPINK5 Mutation in a Patient with Netherton Syndrome: A Case Report.

机译：Netherton综合征患者的新SPINK5突变：病例报告。

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We report on a case of Netherton syndrome showing a new SPINK5 mutation (c.957_960dupTGGT duplication in exon 11), associated with partial defect of biotinidase.

机译：我们报告了一个Netherton综合征病例，该病例显示了一个新的SPINK5突变（外显子11中存在c.957_960dupTGGT复制），与生物素酶的部分缺陷有关。

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《Pediatric dermatology》 |2012年第4期|共2页
作者
Maria G Alpigiani; Pietro Salvati; Maria Cristina Schiaffino; Corrado Occella; Daniela Castiglia; Claudia Covaciu; Renata Lorini;
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正文语种 eng
中图分类皮肤病学与性病学;
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专利

1. A New SPINK5 Mutation in a Patient with Netherton Syndrome: A Case Report. [J] . Maria G Alpigiani, Pietro Salvati, Maria Cristina Schiaffino, Pediatric dermatology . 2012,第4期

机译：Netherton综合征患者的新SPINK5突变：病例报告。
2. Deleterious mutations in SPINK5 in a patient with congenital ichthyosiform erythroderma: molecular testing as a helpful diagnostic tool for Netherton syndrome. [J] . Sprecher E, Tesfaye Kedjela A, Ratajczak P, Clinical and experimental dermatology . 2004,第5期

机译：先天性鱼鳞状红皮病患者中SPINK5的有害突变：分子检测作为Netherton综合征的有用诊断工具。
3. Is c.1431-12G&A A common European mutation of SPINK5? report of a patient with Netherton Syndrome [J] . R ??migiel, B Kr?3lak-Olejnik, D ??nieg?3rska, Balkan journal of medical genetics: BJMG . 2016,第2期

机译：c.1431-12G＆ A是SPINK5的常见欧洲突变吗？纳瑟顿综合症患者的报告
4. The Spectrum of SCN5A Gene Mutations in Singapore Brugada Syndrome Patients [C] . Rita Yu Yin Yong, BY. Tan, LSH. Gan, International Molecular Medicine Tri-Conference. . 2016

机译：新加坡巴鲁达综合征患者SCN5A基因突变的谱
5. Evaluation of the accuracy of quantitative models in predicting Lynch syndrome (hereditary nonpolyposis colorectal cancer with defective DNA mismatch repair) mutations in a population-based sample of early-onset colorectal cancer patients [D] . Carpiniello, Lauren 2007

机译：在以人群为基础的早发性大肠癌患者样本中预测定量模型预测Lynch综合征（遗传性非息肉病性大肠直肠癌，DNA失配修复缺陷）的准确性
6. Is c.1431-12GA a Common European Mutation of SPINK5? Report of a Patient with Netherton Syndrome [O] . R Śmigiel, B Królak-Olejnik, D Śniegórska, 2016

机译：c.1431-12G A是SPINK5的欧洲常见突变吗？纳瑟顿综合症患者的报告
7. Correlation between SPINK5 Gene Mutations and Clinical Manifestations in Netherton Syndrome Patients [O] . Komatsu Nahoko, Saijoh Kiyofumi, Jayakumar Arumugam, 2008

机译：Netherton综合征患者SPINK5基因突变与临床表现的相关性

A New SPINK5 Mutation in a Patient with Netherton Syndrome: A Case Report.

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