A novel deletion and two recurrent substitutions on type VII collagen gene in seven Iranian patients with epidermolysis bullosa.

ABSTRACT:

Objectives

Epidermolysis bullosa is one of the most important series of mechano-bullous heritable skin disorders which is categorized into four major types according to the layer that bullae forms within basement membrane zone. In dystrophic form of the disease, blisters are made in the sublamina densa zone, at the level of type VII collagen protein which produce anchoring fibrils. Type VII collagen gene is the only responsible gene for this form. The aim of this study was to survey causative mutations of type VII collagen gene among Iranian patients with epidermolysis bullosa.

Materials and methods

For this purpose, exons 73-75 were investigated by polymerase chain reaction followed by direct sequencing.

Results

In current study, we found three different point mutati

SUBMITTER: Hamidi AK 

PROVIDER: S-EPMC5048121 | biostudies-literature | 2016 Aug

REPOSITORIES: biostudies-literature