-
1
المؤلفون: Vivienne Reed, Yvonne Boyd, Pamela Cunliffe
المصدر: Genomics. 74:155-162
مصطلحات موضوعية: Recombinant Fusion Proteins, Nonsense mutation, ATP7A, Biology, medicine.disease_cause, Frameshift mutation, Mice, Exon, Genetics, medicine, Animals, Humans, Allele, Menkes Kinky Hair Syndrome, Cation Transport Proteins, Alleles, Adenosine Triphosphatases, Mice, Inbred C3H, Mutation, Models, Genetic, Reverse Transcriptase Polymerase Chain Reaction, Exons, Sequence Analysis, DNA, medicine.disease, Mice, Inbred C57BL, Blotting, Southern, Disease Models, Animal, Phenotype, Copper-Transporting ATPases, Menkes disease, Carrier Proteins, Menkes' syndrome, Gene Deletion
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b736a3479ab13116613d2f3785c84605Test
https://doi.org/10.1006/geno.2001.6529Test -
2
المؤلفون: Takuya Moriya, Yasumasa Mototani, Tadashi Okamura, Xiang Yuan Pei, Noriyuki Kasai, Satomi Kameo, Ichiro Miyoshi, Yan Meng
المصدر: Genomics. 87(2)
مصطلحات موضوعية: Male, Transgene, ATP7A, Mutant, Congenic, Biology, Exon, Mice, Genetics, medicine, In Situ Nick-End Labeling, Animals, Transgenes, Yolk sac, Menkes Kinky Hair Syndrome, Cation Transport Proteins, DNA Primers, Adenosine Triphosphatases, Base Sequence, Atp7a, Menkes disease, Copper deficiency, medicine.disease, Molecular biology, Mice, Mutant Strains, Mottled mouse, Embryonic lethality, Mice, Inbred C57BL, Disease Models, Animal, medicine.anatomical_structure, Phenotype, Copper-Transporting ATPases, embryonic structures, Female, Genes, Lethal, Menkes' syndrome
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cbe461d6410ba71d5ac950906ae27068Test
https://pubmed.ncbi.nlm.nih.gov/16338116Test -
3
المؤلفون: Chiara Cecchi, Philip Avner
المصدر: Genomics. 37(1)
مصطلحات موضوعية: DNA, Complementary, Recombinant Fusion Proteins, Molecular Sequence Data, Restriction Mapping, Biology, Homology (biology), Exon, Mice, Gene mapping, Dosage Compensation, Genetic, Gene cluster, Genetics, medicine, Animals, Humans, Cloning, Molecular, Menkes Kinky Hair Syndrome, Gene, Cation Transport Proteins, Genomic organization, Adenosine Triphosphatases, Mice, Inbred C3H, Polymorphism, Genetic, Base Sequence, Chromosome Mapping, Exons, medicine.disease, Introns, Mice, Inbred C57BL, ATP7A Gene, Copper-Transporting ATPases, Menkes disease, Carrier Proteins
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7805fa0f7be7f82d04bfd231a6981520Test
https://pubmed.ncbi.nlm.nih.gov/8921375Test -
4
المصدر: Genomics. 28(3)
مصطلحات موضوعية: Pseudogene, RNA Splicing, Recombinant Fusion Proteins, Molecular Sequence Data, Restriction Mapping, Biology, Exon shuffling, Exon, Exon trapping, Genetics, medicine, Humans, Menkes Kinky Hair Syndrome, Cation Transport Proteins, DNA Primers, Repetitive Sequences, Nucleic Acid, Adenosine Triphosphatases, Phosphoglycerate Mutase, Splice site mutation, Base Sequence, Alternative splicing, DNA, Exons, medicine.disease, Introns, Copper-Transporting ATPases, Menkes disease, Tandem exon duplication, Carrier Proteins, Pseudogenes
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3a247ad03863db8a9caf5ccbfbaacb2Test
https://pubmed.ncbi.nlm.nih.gov/7490081Test -
5
المؤلفون: Andrew M. George, Vivienne Reed, Yvonne Boyd, P. H. Glenister, Jamel Chelly, Nina Horn, Anthony P. Monaco, Zeynep Tümer
المصدر: Genomics. 22(1)
مصطلحات موضوعية: Male, DNA, Complementary, X Chromosome, Genetic Linkage, Restriction Mapping, Locus (genetics), Biology, Restriction fragment, Mice, Exon, Restriction map, Gene mapping, Genetics, medicine, Animals, Humans, Menkes Kinky Hair Syndrome, Chromosomes, Artificial, Yeast, Gene, X chromosome, medicine.disease, Mice, Mutant Strains, Electrophoresis, Gel, Pulsed-Field, Mice, Inbred C57BL, Disease Models, Animal, Phosphoglycerate Kinase, Phenotype, Mutation, biology.protein, Female, Genes, Lethal, Menkes disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8fb103f073de2239823743a722983a64Test
http://ora.ox.ac.uk/objects/uuid:9c107531-fabd-4ac1-86ae-b38aa6f32c10Test