Cerebrovascular diseases in two patients with entire NSD1 deletion
نویسندگان
چکیده
منابع مشابه
A novel deletion and two recurrent substitutions on type VII collagen gene in seven Iranian patients with epidermolysis bullosa
Objective(s): 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 ...
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ژورنال
عنوان ژورنال: Human Genome Variation
سال: 2021
ISSN: 2054-345X
DOI: 10.1038/s41439-021-00151-z