Literature DB >> 26387488

Two novel missense mutations of STS gene underlie X-linked recessive ichthyosis: understanding of the mutational and structural spectrum.

N Oyama1, M Matsuda2, T Hamada2, S Numata2, K Teye2, T Hashimoto2, M Hasegawa3.   

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Year:  2015        PMID： 26387488     DOI： 10.1111/jdv.13231

Source DB:  PubMed          Journal:  J Eur Acad Dermatol Venereol        ISSN： 0926-9959            Impact factor:   6.166


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  2 in total

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

Authors:  Xiong Wang; Lu Tan; Na Shen; Yanjun Lu; Ying Zhang
Journal:  BMC Med Genet       Date:  2018-07-18       Impact factor: 2.103

2.  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.

Authors:  Sibtain Afzal; Khushnooda Ramzan; Sajjad Ullah; Salma M Wakil; Arshad Jamal; Sulman Basit; Ahmed Bilal Waqar
Journal:  BMC Med Genet       Date:  2020-01-31       Impact factor: 2.103
  2 in total

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