8,153
edits
Changes
From Fellrnr.com, Running tips
m
→Details
=Details=
[[File:RDEB.JPG|right|thumb|300px|The structure of the skin and how different types of EB are caused.]][[File:Epidermolysis bullosa.jpg|right|thumb|300px|Another view of the skin structure.]]
* DEB is caused by mutations in the [http://ghr.nlm.nih.gov/gene/COL7A1 COL7A1 gene]
* COL7A1 encodes [http://en.wikipedia.org/wiki/Collagen,_type_VII,_alpha_1 type VII collagen], a major component of the [http://en.wikipedia.org/wiki/Anchoring_fibrils anchoring fibrils]
* In HS RDEB there are no anchoring fibrils, creating a life threatening problem. In non-HS RDEB, the anchoring fibrils are present in limited forms.
* COL7A1 gene is located short arm of human chromosome 3, in the chromosomal region denoted 3p21.31. The gene is approximately 31000 base pairs in size at 48,601,505 to 48,632,592
* The epidermis has 4-5 layers, with cells formed at the innermost layer and migrating to the outside over the course of about six weeks.
=Supposition and incomplete information=
