Novel keratin 5 mutations in epidermolysis bullosa simplex: cases with unusual genotype-phenotype correlation.
Oh
Se-Woong
SW
Lee
Jeong Sun
JS
Kim
Moon Young
MY
Kim
Soo-Chan
SC
D000328:Adult; D016110:Epidermolysis Bullosa Simplex / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D007223:Infant; D053555:Keratin-5 / Q000235:genetics* / Q000378:metabolism; D008297:Male; D010641:Phenotype; D012867:Skin / Q000378:metabolism / Q000473:pathology
D053555:Keratin-5