𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers–Danlos syndrome (EDS VIA)

✍ Scribed by Cecilia Giunta; Ann Randolph; Lihadh I. Al-Gazali; Han G. Brunner; Marius E. Kraenzlin; Beat Steinmann


Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
145 KB
Volume
133A
Category
Article
ISSN
1552-4825

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


A compound heterozygote patient with Ehl
✍ Birgitta Pousi; Timo Hautala; James C. Hyland; Jukka Schröter; Beate Eckes; Kari 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 229 KB 👁 1 views

We report the first deletion mutation and the first splicing defect in the lysyl hydroxylase gene in a compound heterozygote patient with Ehlers-Danlos syndrome type VI with markedly reduced lysyl hydroxylase activity. Northern analysis of the RNA isolated from skin fibroblasts of the patient demons