一个患有严重板层状鱼鳞病的巴基斯坦家庭中的新型转谷氨酰胺酶1（TGM1）突变。 - Suppr

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超能文献

Novel TGM1 mutation in a Pakistani family affected with severe lamellar ichthyosis.

作者信息

Rasheed Madiha, Karim Noreen, Shah Faiez Ahmed, Naeem Muhammad

机构信息

Medical Genetics Research Laboratory, Department of Biotechnology, Quaid-I-Azam University, Islamabad, Pakistan.

出版信息

Pediatr Neonatol. 2018 Dec;59(6):628-629. doi: 10.1016/j.pedneo.2018.01.003. Epub 2018 Jan 9.

DOI:10.1016/j.pedneo.2018.01.003

PMID:29396135

Abstract

摘要

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Co-Occurrence of Autosomal Recessive Lamellar Ichthyosis and X-Linked Recessive Ichthyosis in a Consanguineous Pakistani Family.巴基斯坦一个近亲结婚家庭中常染色体隐性板层状鱼鳞病与X连锁隐性鱼鳞病的共现。

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Exome Analysis Identifies a Novel Compound Heterozygous Alteration in Gene Leading to Lamellar Ichthyosis in a Child From Saudi Arabia: Case Presentation.外显子组分析在一名沙特阿拉伯儿童中发现导致板层状鱼鳞病的基因中的一种新型复合杂合变异：病例报告。

Front Pediatr. 2019 Feb 21;7:44. doi: 10.3389/fped.2019.00044. eCollection 2019.

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