A heterozygous frameshift mutation in the V1 domain of keratin 5 in a family with Dowling-Degos disease

Biochemistry, Genetics and Molecular Biology

• Frameshift Mutation 100%
• Keratin 5 100%
• Cytoskeleton 50%
• Keratinocyte 50%
• Exon 50%
• DNA Sequence 50%
• Intermediate Filament 50%
• Codon 50%
• Genodermatosis 50%
• Autosomal Dominant Inheritance 50%
• Proband 50%
• Haploinsufficiency 50%
• Pigmentation 50%
• Photosynthetic Pigment 50%
• Keratin 50%

Keyphrases

• Frameshift mutation 100%
• Keratin 5 100%
• Dowling-Degos Disease 100%
• PCR Products 25%
• Polypeptide 25%
• Keratin Intermediate Filaments 25%
• Intermediate Filaments Cytoskeleton 25%
• Epidermis 25%
• Exon 1 25%
• Basal Keratinocytes 25%
• Premature Termination Codon 25%
• Kindred 25%
• Genodermatosis 25%
• Direct Sequencing 25%
• Deletion mutation 25%
• Autosomal Dominant 25%
• Haploinsufficiency 25%
• Proband 25%
• Flexure 25%
• Reticulate pigmentation 25%
• KRT5 25%