𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Compound heterozygosity in sibling patients with recessive dystrophic epidermolysis bullosa associated with a mild phenotype

✍ Scribed by Y. Shibusawa; I. Negishi; O. Ishikawa

Book ID
110877774
Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
174 KB
Volume
45
Category
Article
ISSN
0011-9059

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

Different phenotypes in recessive dystro
Different phenotypes in recessive dystrophic epidermolysis bullosa patients sharing the same mutation in compound heterozygosity with two novel mutations in the type VII collagen gene
✍ R. Gardella; N. Zoppi; G. Zambruno; S. Barlati; M. Colombi πŸ“‚ Article πŸ“… 2002 πŸ› John Wiley and Sons 🌐 English βš– 300 KB

## Background: Dystrophic epidermolysis bullosa (deb) is a bullous skin disease caused by mutations in the type vii collagen gene (col7a1). ## Objective: To elucidate the mutations shown by two patients with deb and understand the clinical phenotypes that they displayed. ## Methods: We have cha