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Novel Point Mutations in the Steroid Sulfatase Gene in Patients with X-Linked Ichthyosis: Transfection Analysis Using the Mutated Genes

Noritaka Oyama, Masataka Satoh, Keiji Iwatsuki, Fumio Kaneko

Journal of Investigative Dermatology · 2000 · 22 citations · 18 references

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18

Basic methods in molecular biology

Huntington Potter · Trends in Neurosciences · 1987 · 832 citations

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Cloning and expression of steroid sulfatase cDNA and the frequent occurrence of deletions in STS deficiency: Implications for X-Y interchange

Pauline H. Yen, Elizabeth Allen, Birgit Marsh et al. · Cell · 1987 · 272 citations

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The human X-linked steroid sulfatase gene and a Y-encoded pseudogene: Evidence for an inversion of the Y chromosome during primate evolution

Pauline H. Yen, Birgit Marsh, Elizabeth Allen et al. · Cell · 1988 · 178 citations

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Frequent deletions of the human X chromosome distal short arm result from recombination between low copy repetitive elements

Pauline H. Yen, Xiaomiao Li, Siao‐Ping Tsai et al. · Cell · 1990 · 167 citations

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ENZYMATIC BASIS OF TYPICAL X-LINKED ICHTHYOSIS

L J Shapiro, M.M. Buxman, Roberta Weiss et al. · The Lancet · 1978 · 166 citations

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