Clinical and genetic study of a family with epidermolysis bullosa simplex caused by a novel KRT5 gene mutation c.987C>G (p.Asn329Lys)
{{output}}
This study investigated the association between the novel KRT5 gene mutation c.987C>G (p.Asn329Lys) and the clinical phenotype of epidermolysis bullosa simplex (EBS), to provide a basis for the molecular diagnosis and genetic counseling of EBS. Clinical data w... ...
