X连锁鱼鳞病的分子研究：类固醇硫酸酯酶基因（STS）中一个新的2碱基插入突变及1例罕见纯合子女性患者的报告 - Suppr

Molecular study of X-linked ichthyosis: report of a novel 2-bp insertion mutation in the STS and a very rare case of homozygous female patient.

作者信息

Murtaza Ghulam, Siddiq Sumaira, Khan Suliman, Hussain Sofia, Naeem Muhammad

机构信息

Department of Biotechnology, Quaid-i-Azam University, Islamabad, Pakistan.

出版信息

J Dermatol Sci. 2014 May;74(2):165-7. doi: 10.1016/j.jdermsci.2013.12.012. Epub 2014 Jan 14.

DOI:10.1016/j.jdermsci.2013.12.012

PMID:24480088

Abstract

摘要

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Molecular study of X-linked ichthyosis: report of a novel 2-bp insertion mutation in the STS and a very rare case of homozygous female patient.

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引用本文的文献

A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients.

BMC Med Genet. 2020 Jan 31;21(1):20. doi: 10.1186/s12881-020-0964-y.

Exacerbation of ichthyosis vulgaris phenotype by co-inheritance of STS and FLG mutations in a Chinese family with ichthyosis: a case report.

BMC Med Genet. 2018 Jul 18;19(1):120. doi: 10.1186/s12881-018-0642-5.

X-linked ichthyosis and Crigler-Najjar syndrome I: Coexistence in a male patient with two copy number variable regions of 2q37.1 and Xp22.3.

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Molecular study of X-linked ichthyosis: report of a novel 2-bp insertion mutation in the STS and a very rare case of homozygous female patient.

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