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Items: 4

1.
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
Sibtain Afzal, Khushnooda Ramzan, Sajjad Ullah, Salma M. Wakil, Arshad Jamal, Sulman Basit, Ahmed Bilal Waqar
BMC Med Genet. 2020; 21: 20. Published online 2020 Jan 31. doi: 10.1186/s12881-020-0964-y
PMCID:
PMC6995215
AbstractArticlePDF–5.2M
2.
Identification of zebrafish steroid sulfatase and comparative analysis of the enzymatic properties with human steroid sulfatase
Katsuhisa Kurogi, Maki Yoshihama, Frederick E. Williams, Naoya Kenmochi, Yoichi Sakakibara, Masahito Suiko, Ming-Cheh Liu
J Steroid Biochem Mol Biol. Author manuscript; available in PMC 2020 Jan 1.
Published in final edited form as: J Steroid Biochem Mol Biol. 2019 Jan; 185: 110–117. Published online 2018 Aug 14. doi: 10.1016/j.jsbmb.2018.08.004
PMCID:
PMC6289849
AbstractArticlePDF–797K
3.
Sex-Dimorphic and Sex Hormone–Dependent Role of Steroid Sulfatase in Adipose Inflammation and Energy Homeostasis
Yuhan Bi, Mengxi Jiang, Weiwei Guo, Xiudong Guan, Meishu Xu, Songrong Ren, Da Yang, Nilesh W Gaikwad, Kyle W Selcer, Wen Xie
Endocrinology. 2018 Sep; 159(9): 3365–3377. Published online 2018 Jul 27. doi: 10.1210/en.2018-00531
PMCID:
PMC6112598
AbstractArticle
4.
Identification of point mutations in the steroid sulfatase gene of three patients with X-linked ichthyosis.
E Basler, M Grompe, G Parenti, J Yates, A Ballabio
Am J Hum Genet. 1992 Mar; 50(3): 483–491.
PMCID:
PMC1684279
SummaryPage BrowsePDF–1.8M

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