-
1
المؤلفون: James R. Lupski, Milan Jamrich, Alexander N. Yatsenko, Wojciech Wiszniewski, Charles M. Zaremba
المصدر: Journal of Molecular Evolution. 60:72-80
مصطلحات موضوعية: Male, DNA, Complementary, Xenopus, Molecular Sequence Data, ABCA4, Sequence alignment, Xenopus Proteins, Biology, Retina, Evolution, Molecular, Xenopus laevis, Species Specificity, Phylogenetics, Genetics, Animals, Amino Acid Sequence, Cloning, Molecular, Molecular Biology, Gene, Phylogeny, Ecology, Evolution, Behavior and Systematics, Silurana, Sequence Homology, Amino Acid, Sequence Analysis, DNA, biology.organism_classification, Transmembrane protein, biology.protein, ATP-Binding Cassette Transporters, Female, Sequence Alignment, Function (biology)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19cd17220537ccf143b017948a79d6b0Test
https://doi.org/10.1007/s00239-004-0118-4Test -
2
المؤلفون: James R. Lupski, Svetlana A. Yatsenko, Alexander N. Yatsenko, Kinga Szigeti, S.W. Cheung, William J. Craigen, Pawel Stankiewicz
المصدر: Clinical Genetics. 66:128-136
مصطلحات موضوعية: Genetics, Pathology, medicine.medical_specialty, biology, Heart disease, medicine.diagnostic_test, business.industry, Heart malformation, Breakpoint, In situ hybridization, medicine.disease, DiGeorge syndrome, biology.protein, Medicine, Abnormality, business, HAND2, Genetics (clinical), Fluorescence in situ hybridization
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a9c8eef68101b2873ebe05a33ef84eecTest
https://doi.org/10.1111/j.1399-0004.2004.00290.xTest -
3
المصدر: Human Mutation. 21:636-644
مصطلحات موضوعية: Male, Sequence analysis, DNA Mutational Analysis, Molecular Sequence Data, ABCA4, Locus (genetics), Exon, Retinal Diseases, Genetics, medicine, Humans, Coding region, Deletion mapping, Genetic Testing, Allele, Alleles, Genetics (clinical), Base Sequence, biology, medicine.disease, Molecular biology, Pedigree, Stargardt disease, Blotting, Southern, biology.protein, ATP-Binding Cassette Transporters, Female, Gene Deletion
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7434e53e0f42a11eb3c57432f139a4d4Test
https://doi.org/10.1002/humu.10219Test -
4
المؤلفون: Theodore G. Wensel, James R. Lupski, Richard A. Lewis, Alexander N. Yatsenko, Noah F. Shroyer
المصدر: Human molecular genetics. 10(23)
مصطلحات موضوعية: Male, Aging, genetic structures, Blotting, Western, DNA Mutational Analysis, ABCA4, Biology, medicine.disease_cause, Transfection, Cell Line, Macular Degeneration, Adenosine Triphosphate, Retinitis pigmentosa, Genetics, medicine, Missense mutation, Humans, Allele, Molecular Biology, Genetics (clinical), Alleles, Family Health, Mutation, Dystrophy, Membrane Proteins, Eye Diseases, Hereditary, General Medicine, DNA, medicine.disease, Null allele, eye diseases, Pedigree, Stargardt disease, Mutagenesis, biology.protein, ATP-Binding Cassette Transporters, Female, sense organs, Plasmids, Protein Binding
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73f51db5cb80f44fa0bc98c7e0c97e74Test
https://pubmed.ncbi.nlm.nih.gov/11726554Test -
5
المصدر: Human genetics. 108(4)
مصطلحات موضوعية: Adult, Male, Adolescent, Mutation, Missense, ABCA4, Biology, medicine.disease_cause, Gene mapping, Retinal Diseases, Chromosome Segregation, Genetics, medicine, Missense mutation, Coding region, Humans, Allele, Age of Onset, Child, Gene, Genetics (clinical), Aged, Mutation, Chromosome Mapping, Middle Aged, medicine.disease, Pedigree, Stargardt disease, biology.protein, ATP-Binding Cassette Transporters, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::304efc8fb5b2e3d9498c287b66d0c347Test
https://pubmed.ncbi.nlm.nih.gov/11379881Test