MeSH term
Frequency | Condition_Probility | Adolescent | 16 | 0.0 |
Adult | 34 | 0.0 |
Aged | 5 | 0.0 |
Child | 19 | 0.0 |
Child, Preschool | 13 | 0.0 |
Female | 62 | 0.0 |
Genes, Dominant | 14 | 1.0 |
Genes, Recessive | 21 | 4.0 |
Humans | 119 | 0.0 |
Infant | 8 | 0.0 |
Infant, Newborn | 8 | 0.0 |
Male | 63 | 0.0 |
Middle Aged | 7 | 0.0 |
Phenotype | 18 | 0.0 |
Research Support, Non-U.S. Gov't | 95 | 0.0 |
*Amino Acid Substitution | 2 | 2.0 |
Collagen Type VII/*genetics | 10 | 100.0 |
Glycine/*genetics | 13 | 37.0 |
*Mutation | 25 | 0.0 |
Pedigree | 56 | 0.0 |
Collagen Type VII/genetics | 3 | 100.0 |
Homozygote | 4 | 0.0 |
Mutation | 21 | 0.0 |
Sequence Analysis, DNA | 5 | 0.0 |
3T3 Cells | 3 | 0.0 |
Animals | 18 | 0.0 |
Cells, Cultured | 14 | 0.0 |
Collagen/genetics | 6 | 6.0 |
Mice | 8 | 0.0 |
Research Support, U.S. Gov't, P.H.S. | 64 | 0.0 |
Base Sequence | 40 | 0.0 |
Collagen/*genetics/metabolism | 4 | 11.0 |
DNA/genetics | 3 | 0.0 |
Epidermolysis Bullosa Dystrophica/*genetics/metabolism | 4 | 100.0 |
Immunohistochemistry | 5 | 0.0 |
Binding Sites | 2 | 0.0 |
DNA, Complementary/genetics | 2 | 0.0 |
Transfection | 4 | 0.0 |
Biopsy | 8 | 0.0 |
Collagen/*genetics | 64 | 14.0 |
DNA Mutational Analysis | 12 | 0.0 |
Epidermolysis Bullosa Dystrophica/*genetics | 33 | 97.0 |
Epidermolysis Bullosa Dystrophica/diagnosis/*genetics | 2 | 100.0 |
Polymerase Chain Reaction | 29 | 0.0 |
Restriction Mapping | 5 | 0.0 |
Gene Therapy/*methods | 2 | 0.0 |
English Abstract | 2 | 0.0 |
Epidermolysis Bullosa/*genetics | 4 | 40.0 |
Collagen/biosynthesis/*genetics | 2 | 6.0 |
Consanguinity | 3 | 0.0 |
Epidermolysis Bullosa Dystrophica/*genetics/pathology | 19 | 100.0 |
Exons | 12 | 0.0 |
*Point Mutation | 10 | 0.0 |
Amino Acid Substitution | 7 | 0.0 |
Collagen/analysis/*genetics | 3 | 25.0 |
Glycine/genetics | 4 | 4.0 |
Blotting, Southern | 3 | 0.0 |
Fibroblasts/metabolism | 3 | 0.0 |
Gene Expression | 2 | 0.0 |
Gene Transfer Techniques | 2 | 0.0 |
Reverse Transcriptase Polymerase Chain Reaction | 5 | 0.0 |
Gene Therapy | 2 | 0.0 |
Genes, Recessive/*genetics | 2 | 3.0 |
Heteroduplex Analysis | 3 | 3.0 |
Mutation/*genetics | 2 | 0.0 |
Promoter Regions (Genetics)/*genetics | 2 | 0.0 |
*Transcription, Genetic | 2 | 0.0 |
Chorionic Villi Sampling | 2 | 4.0 |
Deoxyribonucleases, Type II Site-Specific/metabolism | 2 | 1.0 |
Pregnancy | 5 | 0.0 |
*Prenatal Diagnosis | 4 | 1.0 |
DNA Primers | 5 | 0.0 |
Mexico | 4 | 4.0 |
Alleles | 13 | 0.0 |
Amino Acid Substitution/genetics | 2 | 0.0 |
Arginine/genetics | 4 | 2.0 |
Collagen/chemistry/*genetics | 5 | 17.0 |
Microscopy, Electron | 10 | 0.0 |
Mutation, Missense | 2 | 0.0 |
Skin/pathology/ultrastructure | 6 | 33.0 |
Amino Acid Substitution/*genetics | 2 | 3.0 |
Base Sequence/genetics | 2 | 0.0 |
*Genes, Recessive | 9 | 6.0 |
Molecular Sequence Data | 40 | 0.0 |
Fluorescent Antibody Technique, Indirect | 4 | 0.0 |
Skin/ultrastructure | 3 | 14.0 |
Blotting, Western | 3 | 0.0 |
Comparative Study | 5 | 0.0 |
Electrophoresis | 2 | 0.0 |
Epidermolysis Bullosa Dystrophica/genetics | 3 | 75.0 |
RNA, Messenger/analysis | 3 | 0.0 |
Cell Adhesion Molecules/*genetics | 2 | 2.0 |
Epidermolysis Bullosa, Junctional/*genetics | 2 | 8.0 |
*Exons | 4 | 1.0 |
Fluorescent Antibody Technique | 4 | 0.0 |
*Frameshift Mutation | 2 | 1.0 |
Chromosome Mapping | 8 | 0.0 |
Genetic Markers | 6 | 0.0 |
In Situ Hybridization, Fluorescence | 2 | 0.0 |
*Codon, Terminator | 2 | 20.0 |
Genotype | 11 | 0.0 |
Haplotypes | 9 | 0.0 |
Point Mutation | 10 | 0.0 |
Genetic Heterogeneity | 3 | 1.0 |
Basement Membrane | 2 | 11.0 |
Epidermolysis Bullosa/*genetics/pathology | 2 | 18.0 |
Variation (Genetics) | 2 | 0.0 |
Electrophoresis, Polyacrylamide Gel | 2 | 0.0 |
Frameshift Mutation | 2 | 0.0 |
Heterozygote | 8 | 0.0 |
Skin/metabolism | 3 | 1.0 |
DNA Mutational Analysis/methods | 2 | 0.0 |
Amino Acid Sequence | 14 | 0.0 |
DNA/blood/genetics | 2 | 3.0 |
*Genes, Dominant | 3 | 1.0 |
Glycine | 3 | 4.0 |
*Mutation, Missense | 3 | 0.0 |
Family Health | 6 | 0.0 |
Consensus Sequence | 2 | 0.0 |
DNA-Binding Proteins/*metabolism | 2 | 0.0 |
Nuclear Proteins/metabolism | 2 | 0.0 |
Promoter Regions (Genetics) | 3 | 0.0 |
Transforming Growth Factor beta/pharmacology | 2 | 0.0 |
Point Mutation/*genetics | 5 | 1.0 |
Recurrence | 2 | 0.0 |
Cloning, Molecular | 4 | 0.0 |
RNA, Messenger/genetics | 3 | 0.0 |
*Sequence Deletion | 4 | 1.0 |
Skin Diseases/*genetics/pathology | 2 | 25.0 |
Genes, Dominant/genetics | 3 | 2.0 |
Genes, Recessive/genetics | 4 | 4.0 |
Skin/pathology | 8 | 3.0 |
Genetic Counseling | 3 | 1.0 |
Signal Transduction/genetics | 2 | 0.0 |
Collagen/*genetics/immunology | 3 | 100.0 |
RNA Splicing | 3 | 0.0 |
RNA, Messenger/metabolism | 3 | 0.0 |
Transcription, Genetic | 3 | 0.0 |
Epidermolysis Bullosa Dystrophica/*genetics/metabolism/pathology | 2 | 66.0 |
Introns | 4 | 0.0 |
Keratinocytes/metabolism | 2 | 1.0 |
Procollagen/*genetics | 2 | 1.0 |
Repetitive Sequences, Nucleic Acid | 2 | 0.0 |
Microscopy, Immunoelectron | 3 | 0.0 |
Nucleic Acid Heteroduplexes/genetics | 2 | 11.0 |
DNA | 4 | 0.0 |
Transforming Growth Factor beta/*pharmacology | 2 | 0.0 |
Exons/genetics | 3 | 0.0 |
Epidermolysis Bullosa Dystrophica/epidemiology/*genetics | 2 | 100.0 |
Codon, Terminator/genetics | 2 | 3.0 |
Syndrome | 3 | 0.0 |
Recombination, Genetic | 2 | 0.0 |
Sequence Deletion | 2 | 0.0 |
China/ethnology | 2 | 1.0 |
RNA Splicing/*genetics | 3 | 3.0 |
Nucleic Acid Heteroduplexes | 2 | 4.0 |
*Evolution | 2 | 1.0 |
Hamsters | 3 | 0.0 |
Epidermolysis Bullosa Dystrophica/*diagnosis/genetics | 3 | 100.0 |
Pregnancy Trimester, First | 2 | 0.0 |
Italy | 2 | 0.0 |
DNA, Satellite/genetics | 2 | 1.0 |
*Chromosomes, Human, Pair 3 | 7 | 1.0 |
Linkage (Genetics) | 5 | 0.0 |
Lod Score | 2 | 0.0 |
Polymorphism, Genetic | 3 | 0.0 |
*Linkage (Genetics) | 2 | 0.0 |
Protein Conformation | 2 | 0.0 |
Polymorphism, Restriction Fragment Length | 4 | 0.0 |
DNA, Complementary | 3 | 0.0 |
*Polymorphism, Genetic | 2 | 0.0 |
Blotting, Northern | 3 | 0.0 |
*DNA Transposable Elements | 2 | 3.0 |
Sequence Homology, Amino Acid | 2 | 0.0 |
Hybrid Cells | 2 | 0.0 |
Nucleic Acid Hybridization | 2 | 0.0 |
