Identification of point mutations in the steroid sulfatase gene of three patients with X-linked ichthyosis

Medicine & Life Sciences

• X-Linked Ichthyosis 100%
• Steryl-Sulfatase 93%
• Point Mutation 58%
• Codon 29%
• Genes 24%
• Dideoxynucleotides 16%
• Complementary DNA 16%
• Fibroblasts 14%
• Nucleic Acid Hybridization 14%
• Basic Amino Acids 13%
• Inborn Errors Metabolism 12%
• Southern Blotting 10%
• Amino Acid Substitution 10%
• Tryptophan 10%
• Disulfides 10%
• Oligonucleotides 10%
• Leucine 10%
• Protein Domains 10%
• Serine 9%
• Cysteine 9%
• Tyrosine 9%
• Arginine 9%
• Reverse Transcription 8%
• Alleles 7%
• RNA 6%
• Western Blotting 6%
• Peptides 6%
• Phenotype 6%
• Polymerase Chain Reaction 5%
• Mutation 5%
• DNA 5%
• Antibodies 5%
• Enzymes 5%