Gene showed deletion genes recessive. Medical search. Frequent questions

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Anatomy27

Cell Line Chromosomes, Human, Pair 22 X Chromosome Chromosomes, Human, Pair 1 Chromosomes, Human, Pair 9 Chromosomes, Human, Pair 2 Cells, Cultured Chromosomes, Human, Pair 3 Chromosomes, Human, Pair 13 Chromosomes, Human, Pair 16 Chromosomes, Human, Pair 7 Chromosomes, Human, Pair 11 Chromosomes, Human, Pair 17 Chromosomes, Human, Pair 5 Chromosomes, Human, Pair 6 Fibroblasts Chromosomes, Human, Pair 4 Chromosomes, Human, Pair 15 Chromosomes, Human, Pair 19 COS Cells Chromosomes, Human, X Chromosomes, Human, Pair 10 Chromosomes, Human, Pair 8 HeLa Cells Skin Hybrid Cells Chromosomes, Human, Y

Organisms7

Mice, Knockout Saccharomyces cerevisiae Escherichia coli Mice, Inbred C57BL Mice, Mutant Strains Drosophila melanogaster Cricetinae

Diseases55

Chromosome Deletion Syndrome Abnormalities, Multiple Polycystic Kidney, Autosomal Recessive Intellectual Disability Retinitis Pigmentosa Microcephaly Ichthyosis Deafness Chromosome Disorders Epidermolysis Bullosa Dystrophica Genetic Predisposition to Disease Muscular Dystrophies Hypotrichosis Chromosome Aberrations 22q11 Deletion Syndrome Osteochondrodysplasias Facies DiGeorge Syndrome Ichthyosiform Erythroderma, Congenital Dwarfism Hearing Loss, Sensorineural Craniofacial Abnormalities Cerebellar Ataxia Disease Models, Animal Genetic Diseases, Inborn Ichthyosis, Lamellar Eye Abnormalities Sex Chromosome Aberrations Muscle Hypotonia Microphthalmos Bone Diseases, Developmental Metabolism, Inborn Errors Muscular Atrophy, Spinal Chromosome Breakage Epidermolysis Bullosa Eye Diseases, Hereditary Charcot-Marie-Tooth Disease Genetic Diseases, X-Linked Osteopetrosis Hearing Loss Albinism, Oculocutaneous Kidney Diseases, Cystic Ectodermal Dysplasia Retinal Degeneration Myotonia Congenita Syndactyly Friedreich Ataxia Albinism Foot Deformities, Congenital Limb Deformities, Congenital Nails, Malformed Muscular Diseases Dysostoses Translocation, Genetic

Chemicals and Drugs38

Genetic Markers DNA Primers Codon, Nonsense DNA RNA, Messenger DNA-Binding Proteins Membrane Proteins Transcription Factors Bacterial Proteins Saccharomyces cerevisiae Proteins Carrier Proteins Fungal Proteins DNA Transposable Elements Recombinant Fusion Proteins Nuclear Proteins Proteins Eye Proteins Recombinant Proteins DNA, Complementary DNA, Mitochondrial Collagen Type VII Nerve Tissue Proteins Survival of Motor Neuron 1 Protein DNA Restriction Enzymes Repressor Proteins Ethyl Methanesulfonate Ubiquitin-Protein Ligases Ethylnitrosourea DNA, Fungal RNA Splice Sites Dystrophin DNA, Bacterial Viral Proteins SMN Complex Proteins RNA-Binding Proteins Escherichia coli Proteins Cell Cycle Proteins Trans-Activators

Analytical, Diagnostic and Therapeutic Techniques and Equipment33

Pedigree Chromosome Mapping DNA Mutational Analysis Polymerase Chain Reaction Genetic Complementation Test Cloning, Molecular Crosses, Genetic Sequence Analysis, DNA Models, Genetic Heterozygote Detection Restriction Mapping Blotting, Southern Mutagenesis, Insertional In Situ Hybridization, Fluorescence Genetic Testing Sequence Alignment Transfection Mutagenesis, Site-Directed Facies Karyotyping Disease Models, Animal Physical Chromosome Mapping Chromosome Banding Reverse Transcriptase Polymerase Chain Reaction Amino Acid Substitution Genetic Association Studies Nucleic Acid Hybridization Blotting, Western Comparative Genomic Hybridization Pigmentation Gene Targeting Electroretinography Case-Control Studies

Psychiatry and Psychology2

Intellectual Disability Family

Phenomena and Processes118

Genes, Recessive Gene Deletion Sequence Deletion Chromosome Deletion Mutation Consanguinity Base Sequence Homozygote Phenotype Amino Acid Sequence Alleles Heterozygote Genetic Linkage Exons Genes, Dominant Genotype Frameshift Mutation Mutation, Missense Genes, Lethal Point Mutation Genetic Markers Lod Score Haplotypes Mutagenesis Plasmids Codon, Nonsense Promoter Regions, Genetic Recombination, Genetic Transcription, Genetic Chromosomes, Human, Pair 22 Clonal Deletion Polymorphism, Genetic Microsatellite Repeats Sequence Homology, Amino Acid X Chromosome Mutagenesis, Insertional Protein Structure, Tertiary Genes Genetic Predisposition to Disease Chromosomes, Human, Pair 1 Polymorphism, Single-Stranded Conformational Genes, Fungal Introns Transfection Polymorphism, Single Nucleotide Founder Effect Chromosomes, Human, Pair 9 Genetic Heterogeneity Chromosomes, Human, Pair 2 Chromosome Aberrations Gene Frequency Protein Binding Suppression, Genetic Gene Expression Regulation Binding Sites Exome Genes, Bacterial Gene Dosage Repetitive Sequences, Nucleic Acid DNA Transposable Elements Genetic Variation Chromosomes, Human, Pair 3 Chromosomes, Human, Pair 13 Chromosomes, Human, Pair 16 Chromosomes, Human, Pair 7 Chromosomes, Human, Pair 11 Gene Expression Chromosomes, Human, Pair 17 Chromosomes, Human, Pair 5 INDEL Mutation Inheritance Patterns Polymorphism, Restriction Fragment Length Sex Chromosome Aberrations Signal Transduction Chromosomes, Human, Pair 6 Multigene Family Amino Acid Substitution Sequence Homology, Nucleic Acid Gene Expression Regulation, Bacterial Nucleic Acid Hybridization Gene Rearrangement Genes, Regulator Gene Expression Regulation, Fungal Chromosome Breakage Genetic Loci RNA Splicing Pigmentation Chromosomes, Human, Pair 4 Chromosomes, Human, Pair 15 Conserved Sequence Genes, Suppressor Open Reading Frames Genes, Plant Structure-Activity Relationship Chromosomes, Human, Pair 19 Loss of Heterozygosity Penetrance Mosaicism DNA Copy Number Variations Genes, Viral Operon Gene Duplication Chromosomes, Human, X Virulence RNA Splice Sites Chromosomes, Human, Pair 10 Alternative Splicing Chromosomes, Human, Pair 8 Regulatory Sequences, Nucleic Acid Genetic Vectors Hair Color Diploidy Protein Transport Gene Expression Regulation, Developmental Haploidy Genome, Human Chromosomes, Human, Y Translocation, Genetic

Anthropology, Education, Sociology and Social Phenomena1

Information Science3

Molecular Sequence Data Base Sequence Amino Acid Sequence

Named Groups4

Infant, Newborn Arabs Jews Asian Continental Ancestry Group

Health Care4

Genetic Testing Family Health Age of Onset Case-Control Studies

Geographicals2

Pakistan Tunisia

Anatomy Organisms Diseases Chemicals and Drugs Analytical, Diagnostic and Therapeutic Techniques and Equipment Psychiatry and Psychology Phenomena and Processes Anthropology, Education, Sociology and Social Phenomena Information Science Named Groups Health Care Geographicals

Genes, Recessive Gene Deletion Sequence Deletion Chromosome Deletion Mutation Consanguinity Pedigree Molecular Sequence Data Base Sequence Homozygote Phenotype Chromosome Mapping DNA Mutational Analysis Amino Acid Sequence Syndrome Alleles Heterozygote Genetic Linkage Exons Abnormalities, Multiple Polycystic Kidney, Autosomal Recessive Genes, Dominant Genotype Frameshift Mutation Polymerase Chain Reaction Mutation, Missense Genes, Lethal Genetic Complementation Test Cloning, Molecular Intellectual Disability Crosses, Genetic Retinitis Pigmentosa Point Mutation Microcephaly Genetic Markers Mice, Knockout DNA Primers Lod Score Haplotypes Mutagenesis Plasmids Ichthyosis Sequence Analysis, DNA Codon, Nonsense Cell Line Saccharomyces cerevisiae Promoter Regions, Genetic Recombination, Genetic Transcription, Genetic Models, Genetic DNA Chromosomes, Human, Pair 22 Heterozygote Detection Clonal Deletion Polymorphism, Genetic RNA, Messenger DNA-Binding Proteins Microsatellite Repeats Membrane Proteins Sequence Homology, Amino Acid Restriction Mapping Escherichia coli Transcription Factors X Chromosome Blotting, Southern Mutagenesis, Insertional Mice, Inbred C57BL Deafness Protein Structure, Tertiary Chromosome Disorders Epidermolysis Bullosa Dystrophica In Situ Hybridization, Fluorescence Genes Genetic Predisposition to Disease Genetic Testing Muscular Dystrophies Sequence Alignment Chromosomes, Human, Pair 1 Hypotrichosis Polymorphism, Single-Stranded Conformational Mice, Mutant Strains Bacterial Proteins Genes, Fungal Introns Transfection Family Health Polymorphism, Single Nucleotide Founder Effect Chromosomes, Human, Pair 9 Genetic Heterogeneity Chromosomes, Human, Pair 2 Chromosome Aberrations Saccharomyces cerevisiae Proteins 22q11 Deletion Syndrome Gene Frequency Protein Binding Suppression, Genetic Mutagenesis, Site-Directed Gene Expression Regulation Carrier Proteins

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