Mutations in EXPH5 result in autosomal recessive inherited skin fragility

Medicine and Dentistry

• Skin Fragility 100%
• Autosomal Recessive Inheritance 100%
• Epidermolysis Bullosa Simplex 100%
• Sanger Sequencing 66%
• Keratinocyte 66%
• Pathophysiology 33%
• Keratin 33%
• Cytotechnology 33%
• Genomic DNA 33%
• Immunofluorescence Microscopy 33%
• Pedigree 33%
• Heterozygosity 33%
• Genotype Phenotype Correlation 33%
• Acantholysis 33%
• Loss of Function Mutation 33%
• Cytolysis 33%
• Skin Disease 33%
• Transmission Electron Microscopy 33%
• Diseases 33%
• Transport Vesicle 33%

Immunology and Microbiology

• Keratinocyte 100%
• Autosomal Recessive Inheritance 100%
• Dideoxynucleotide Sequencing 100%
• Transmission Electron Microscopy 50%
• Transport Vesicle 50%
• Immunofluorescence 50%
• Genotype Phenotype Correlation 50%
• Pedigree 50%
• Heterozygosity 50%
• Cytolysis 50%
• Loss of Function Mutation 50%
• Acantholysis 50%

Biochemistry, Genetics and Molecular Biology

• Epidermolysis bullosa 100%
• Autosomal Recessive Inheritance 100%
• Dideoxynucleotide Sequencing 66%
• Keratinocyte 66%
• Candidate Gene 33%
• Immunofluorescence 33%
• Transmission Electron Microscopy 33%
• Compound Heterozygosity 33%
• Vesicular Transporter 33%
• Genomics 33%
• Genotype Phenotype Correlation 33%
• Pedigree 33%
• Loss of Function Mutation 33%
• Keratin 33%
• Cytolysis 33%