MeSH term
Frequency | Condition_Probility | Humans | 49 | 0.0 |
Female | 25 | 0.0 |
Heterozygote | 7 | 0.0 |
Middle Aged | 8 | 0.0 |
Mutation, Missense/*genetics | 3 | 1.0 |
Research Support, Non-U.S. Gov't | 27 | 0.0 |
*Amino Acid Transport Systems, Basic | 32 | 84.0 |
Carrier Proteins/*genetics | 26 | 2.0 |
Cystinuria/classification/diagnosis/*genetics | 2 | 100.0 |
Exons/genetics | 5 | 0.0 |
Gene Frequency | 6 | 0.0 |
Genotype | 11 | 0.0 |
Introns/genetics | 3 | 0.0 |
Membrane Glycoproteins/*genetics | 23 | 5.0 |
Polymorphism, Genetic | 4 | 0.0 |
Adolescent | 8 | 0.0 |
Adult | 10 | 0.0 |
Aged | 4 | 0.0 |
Aged, 80 and over | 2 | 0.0 |
Base Sequence | 15 | 0.0 |
DNA/chemistry/genetics | 2 | 0.0 |
DNA Mutational Analysis | 8 | 0.0 |
Male | 23 | 0.0 |
Mutation | 14 | 0.0 |
Polymorphism, Single-Stranded Conformational | 4 | 0.0 |
Sweden | 2 | 0.0 |
Carrier Proteins/genetics | 4 | 1.0 |
Child | 7 | 0.0 |
Child, Preschool | 3 | 0.0 |
Chromosome Mapping | 8 | 0.0 |
Chromosomes, Human, Pair 2/*genetics | 3 | 1.0 |
Gene Deletion | 3 | 0.0 |
Genes, Recessive/*genetics | 2 | 3.0 |
Homozygote | 4 | 0.0 |
Infant, Newborn | 2 | 0.0 |
Membrane Glycoproteins/genetics | 3 | 1.0 |
Molecular Sequence Data | 15 | 0.0 |
Amino Acids/*metabolism | 2 | 5.0 |
Animals | 6 | 0.0 |
Biological Transport | 3 | 0.0 |
Cystine/metabolism | 3 | 33.0 |
Models, Biological | 2 | 0.0 |
Membrane Transport Proteins/*genetics | 2 | 3.0 |
Amino Acid Sequence | 4 | 0.0 |
Creatinine/urine | 2 | 1.0 |
Cystinuria/*classification/*genetics/urine | 2 | 100.0 |
Heterozygote Detection | 2 | 0.0 |
Phenotype | 8 | 0.0 |
Chromosomes, Human, Pair 19 | 2 | 1.0 |
Chromosomes, Human, Pair 2 | 2 | 1.0 |
Family Health | 3 | 0.0 |
Cloning, Molecular | 2 | 0.0 |
Codon, Nonsense | 2 | 1.0 |
Pedigree | 11 | 0.0 |
Research Support, U.S. Gov't, P.H.S. | 5 | 0.0 |
Sequence Homology, Amino Acid | 2 | 0.0 |
Species Specificity | 2 | 0.0 |
Amino Acids/*urine | 3 | 27.0 |
Cystinuria/genetics | 3 | 100.0 |
Linkage (Genetics) | 3 | 0.0 |
Molecular Biology | 2 | 0.0 |
Blotting, Southern | 3 | 0.0 |
Cystinuria/ethnology/*genetics | 3 | 100.0 |
DNA Primers | 4 | 0.0 |
*Mutation | 4 | 0.0 |
Polymerase Chain Reaction | 2 | 0.0 |
Cystinuria/*genetics | 13 | 81.0 |
Genetic Markers | 5 | 0.0 |
Recombination, Genetic | 2 | 0.0 |
Mutation/*genetics | 3 | 0.0 |
Amino Acids/metabolism | 2 | 2.0 |
*Heterozygote | 3 | 0.0 |
Restriction Mapping | 2 | 0.0 |
Israel | 3 | 1.0 |
Cystine/*metabolism | 3 | 50.0 |
Exons | 3 | 0.0 |
*Genome | 2 | 1.0 |
Introns | 3 | 0.0 |
*Chromosome Mapping | 2 | 0.0 |
*Chromosomes, Human, Pair 19 | 2 | 0.0 |
Chromosomes, Human, Pair 2/genetics | 2 | 1.0 |
Genetic Screening | 5 | 0.0 |
In Situ Hybridization, Fluorescence | 2 | 0.0 |
Genome, Human | 2 | 0.0 |
Sequence Analysis, DNA | 2 | 0.0 |
Germany | 2 | 0.0 |
*Chromosomes, Human, Pair 2 | 2 | 0.0 |
Alleles | 2 | 0.0 |
Arginine/urine | 2 | 66.0 |
Lysine/urine | 2 | 50.0 |
Ornithine/urine | 2 | 100.0 |
Mice | 2 | 0.0 |
English Abstract | 2 | 0.0 |
Case-Control Studies | 2 | 0.0 |
Comparative Study | 3 | 0.0 |
Prevalence | 2 | 0.0 |
*Mutation, Missense | 2 | 0.0 |
