✦ LIBER ✦

Cloning of a cDNA for Steroid Sulfatase: Frequent Occurrence of Gene Deletions in Patients with Recessive X Chromosome-Linked Ichthyosis

✍ Scribed by Jeannette M. Bonifas, Bernard J. Morley, Robert E. Oakey, Yuet Wai Kan and Ervin H. Epstein

Book ID: 123635050
Publisher: National Academy of Sciences
Year: 1987
Tongue: English
Weight: 857 KB
Volume: 84
Category: Article
ISSN: 0027-8424
DOI: 10.2307/30804

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Isolation and Characterization of a Ster

Isolation and Characterization of a Steroid Sulfatase cDNA Clone: Genomic Deletions in Patients with X-chromosome-Linked Ichthyosis

✍ A. Ballabio, G. Parenti, R. Carrozzo, G. Sebastio, G. Andria, V. Buckle, N. Fras 📂 Article 📅 1987 🏛 National Academy of Sciences 🌐 English ⚖ 887 KB

Deletion of the distal short arm of the

Deletion of the distal short arm of the X chromosome (Xp) in a patient with short stature, chondrodysplasia punctata, and X-linked ichthyosis due to steroid sulfatase deficiency

✍ Ballabio, A. ;Zollo, M. ;Carrozzo, R. ;Caiulo, A. ;Zuffardi, O. ;Cascioli, C. F. 📂 Article 📅 1991 🏛 John Wiley and Sons 🌐 English ⚖ 397 KB 👁 2 views

## Abstract We observed a boy with short stature, chondrodysplasia punctata, ichthyosis, and a terminal deletion of Xp. Steroid sulfatase deficiency was demonstrated in the patient's fibroblasts. Molecular analysis showed a deletion of the entire steroid sulfatase gene. This case represents another

Analysis of the STS gene in 40 patients

Analysis of the STS gene in 40 patients with recessive X-linked ichthyosis: a high frequency of partial deletions in a Spanish population

✍ J Cañueto; S Ciria; A Hernández-Martín; P Unamuno; R González-Sarmiento 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 184 KB