✦ LIBER ✦

Exon skipping in the sterol 27-hydroxylase gene leads to cerebrotendinous xanthomatosis

✍ Scribed by A. Verrips; Gerry C. H. Steenbergen-Spanjers; J. A. F. M. Luyten; R. A. Wevers; John H. J. Wokke; Fons J. M. Gabreëls; Bert G. Wolthers; Lambert P. W. J. van den Heuvel

Publisher: Springer
Year: 1997
Tongue: English
Weight: 64 KB
Volume: 100
Category: Article
ISSN: 0340-6717
DOI: 10.1007/s004390050506

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Two new mutations in the sterol 27-hydro

Two new mutations in the sterol 27-hydroxylase gene in two families lead to cerebrotendinous xanthomatosis

✍ A. Verrips; Gerry C. H. Steenbergen-Spanjers; J. A. F. M. Luyten; L. P. W. J. va 📂 Article 📅 1996 🏛 Springer 🌐 English ⚖ 71 KB

Mutation of the sterol 27-hydroxylase ge

Mutation of the sterol 27-hydroxylase gene (CYP27A1) in a Taiwanese family with cerebrotendinous xanthomatosis

✍ Ming-Jen Lee; Yuan-Chung Huang; Mary G. Sweeney; Nicholas W. Wood; Mary M. Reill 📂 Article 📅 2002 🏛 Springer 🌐 English ⚖ 164 KB

Premature termination codon at the stero

Premature termination codon at the sterol 27-hydroxylase gene causes cerebrotendinous xanthomatosis in a French family

✍ Hanna Segev; Ayeleth Reshef; Vèronique Clavey; Christiane Delbart; Gustave Routi 📂 Article 📅 1995 🏛 Springer 🌐 English ⚖ 260 KB

Identification of a new heterozygous poi

Identification of a new heterozygous point mutation in the COL1A2 gene leading to skipping of exon 9 in a patient with joint laxity, hyperextensibility of skin and blue sclerae

✍ Sergej Feshchenko; Jürgen Brinckmann; Hartwig W. Lehmann; Hans-Georg Koch; Peter 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 52 KB 👁 2 views

A heterozygous deletion of exon 9 in the COL1A2 -mRNA of a patient with symptoms of both the Ehlers -Danlos -Syndrome and the Osteogenesis Imperfecta is described. In the genomic DNA of the patient, exon 9 is homozygously present. We identified a novel heterozygous point mutation in the splice donor