✦ LIBER ✦

A novel point mutation in type III collagen gene resulting in exon 24 skipping in a case of vascular type Ehlers-Danlos syndrome

✍ Scribed by Osamu Okamoto; Tadasuke Ando; Atsushi Watanabe; Fuminori Sato; Hiromitsu Mimata; Takashi Shimada; Sakuhei Fujiwara

Book ID: 106078862
Publisher: Springer-Verlag
Year: 2008
Tongue: English
Weight: 463 KB
Volume: 300
Category: Article
ISSN: 0340-3696
DOI: 10.1007/s00403-008-0884-8

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Ehlers-Danlos syndrome, vascular type: A

Ehlers-Danlos syndrome, vascular type: A novel missense mutation in the COL3A1 gene

✍ Masuno, Mitsuo; Watanabe, Atsushi; Naing, Banyar Than; Shimada, Takashi; Fujimot 📂 Article 📅 2012 🏛 John Wiley and Sons 🌐 English ⚖ 1021 KB

A novel point mutation at donor splice-s

A novel point mutation at donor splice-site in intron 42 of type III collagen gene resulting in the inclusion of 30 nucleotides into the mature mRNA in a case of vascular type of Ehlers–Danlos syndrome

✍ Hiroshi Okita; Yasunori Ikeda; Yoshihiko Mitsuhashi; Hiromi Namikawa; Yohei Kita 📂 Article 📅 2009 🏛 Springer-Verlag 🌐 English ⚖ 476 KB

A type III collagen Gly559 to Arg helix

A type III collagen Gly559 to Arg helix mutation in Ehler's-Danlos syndrome type IV

✍ John F. Bateman; Angelo A. Chiodo; Yi Ma Weng; Danny Chan; Eric Haan 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 446 KB

Classical Ehlers-Danlos Syndrome Caused

Classical Ehlers-Danlos Syndrome Caused by a Mutation in Type I Collagen

✍ Lieve Nuytinck; Margarida Freund; Lieven Lagae; Gerald E. Pierard; Trinh Hermann 📂 Article 📅 2000 🏛 American Society of Human Genetics 🌐 English ⚖ 631 KB

Ehlers-Danlos syndrome type VII: a singl

Ehlers-Danlos syndrome type VII: a single base change that causes exon skipping in the type I collagen α2(I) chain

✍ A. C. Nicholls; J. Oliver; D. V. Renouf; J. McPheat; A. Palan; F. M. Pope 📂 Article 📅 1991 🏛 Springer 🌐 English ⚖ 1011 KB

We have examined the procollagens and collagens produced by skin fibroblasts from a patient with Ehlers-Danlos syndrome type VII. The patient was heterozygous for an abnormal alpha 2(I) chain migrating with the approximate size of pN alpha 2(I) chains after pepsin digestion. Peptide mapping suggeste

Collagen biosynthesis and isomorphism in

Collagen biosynthesis and isomorphism in a case of Ehlers-Danlos syndrome Type VI

✍ A. Chamson; P. Berbis; J. -F. Fabre; Y. Privat; J. Frey 📂 Article 📅 1987 🏛 Springer-Verlag 🌐 English ⚖ 754 KB

Collagen metabolism was studied in fibroblasts grown from a skin biopsy specimen of a patient who presented the striking clinical features of Ehlers-Danlos syndrome and, in particular, hyperextensibility of the skin, hypermobility of the joints, and kyphoscoliosis. A reduction in lysine hydroxylatio