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المصدر: Genomics : International Journal of Gene Mapping and Nucleotide Sequencing Emphasizing Analyses of the Human and Other Complex Genomes, 38, 2, pp. 133-140
Genomics : International Journal of Gene Mapping and Nucleotide Sequencing Emphasizing Analyses of the Human and Other Complex Genomes, 38, 133-140
Genomics : International Journal of Gene Mapping and Nucleotide Sequencing Emphasizing Analyses of the Human and Other Complex Genomes, 38, pp. 133-140مصطلحات موضوعية: Bestudering van de structuur-functie relatie voor het choroideremie gen gelegen in Xq21, Study of structure-function relationships for the choroideremia gene located in Xq21, GeneralLiterature_REFERENCE(e.g.,dictionaries,encyclopedias,glossaries)
وصف الملف: application/pdf
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المؤلفون: E.H. Bogerd, H.-H. Ropers, Frans P.M. Cremers, J.A.J.M. van den Hurk, T.J.R. van de Pol, J.H.L.M. van Bokhoven
المصدر: Ophthalmic Paediatrics and Genetics, 17, 119-121
Ophthalmic Paediatrics and Genetics, 17, 3, pp. 119-121مصطلحات موضوعية: Genetic Markers, Molecular Sequence Data, Protein Prenylation, Biology, Polymerase Chain Reaction, Choroideremia, Gene Frequency, medicine, Polymorphic Microsatellite Marker, Humans, Gene, Genetics (clinical), Alleles, Adaptor Proteins, Signal Transducing, DNA Primers, Genetics, Bestudering van de structuur-functie relatie voor het choroideremie gen gelegen in Xq21, Alkyl and Aryl Transferases, Polymorphism, Genetic, Base Sequence, DNA, medicine.disease, Ophthalmology, rab GTP-Binding Proteins, Pediatrics, Perinatology and Child Health, Study of structure-function relationships for the choroideremia gene located in Xq21, Carrier Proteins, Microsatellite Repeats
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aab44239c9716f8383aeebb1dcc917ba
https://hdl.handle.net/2066/23598 -
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المؤلفون: L.A. Ginsel, J.A.J.M. van den Hurk, F.J.M. Opdam, R.A. van de Vorstenbosch, H.J.E. Croes, Arnaud Echard, Jack A.M. Fransen, B. Goud
المصدر: Journal of Cell Science, 113, 2725-2735
Journal of Cell Science, 113, pp. 2725-2735
ResearcherIDمصطلحات موضوعية: Molecular Sequence Data, Golgi Apparatus, Kinesins, GTPase, Biology, Gene Expression Regulation, Enzymologic, GTP Phosphohydrolases, symbols.namesake, Neuroblastoma, RAB6A, Isolation and characterization of proteins involved in the routing of transport vesicles in polarized cells. Role of GTP-binding proteins in the apical pathway, Animals, Humans, Small GTPase, Cloning, Molecular, Secretory pathway, Neurons, Bestudering van de structuur-functie relatie voor het choroideremie gen gelegen in Xq21, Base Sequence, Sequence Homology, Amino Acid, Endoplasmic reticulum, Brain, Chromosome Mapping, Biological Transport, Cell Biology, COPI, Golgi apparatus, Molecular biology, Cell biology, rab GTP-Binding Proteins, Chromosomes, Human, Pair 2, COS Cells, symbols, Study of structure-function relationships for the choroideremia gene located in Xq21, Rab, HT29 Cells
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6102ad94374b66085a5fe19512e10664
http://hdl.handle.net/2066/185923 -
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المؤلفون: Monaco, A.P., Ropers, H.H., Gilgenkrantz, S., Zajac, V.
المصدر: Hum Genome Anal, 23, 175-181
Hum Genome Anal, 23, pp. 175-181مصطلحات موضوعية: Bestudering van de structuur-functie relatie voor het choroideremie gen gelegen in Xq21, Study of structure-function relationships for the choroideremia gene located in Xq21
URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::efcd42c53e1dabf150853dc750fc5485
http://hdl.handle.net/2066/188070 -
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المؤلفون: Dendunnen, J.T., Kraayenbrink, T., Schooneveld, M. van, Vosse, E. van de, Jong, P.T.V.M. de, Brink, J.B. ten, Schuurman, E.J.M., Tijmes, N., Ommen, G.J.B. van, Bergen, A.A.B., Andolfi, G., Montini, E., Oudet, C., Bolz, H., Kaplan, J., Orth, U., Gal, A., Hanauer, A., Bardelli, A.M., Ayuso, C., Diaz, F.J., Bitoun, P., Ventruto, V., Ballabio, A., Franco, B., Hiriyana, K.T., Bingham, E.L., McHenry, C., Pawar, H., Coats, C., Darga, T., Richards, J.E., Sieving, P.A., Huopaniemi, L., Rantala, A., Rosenberg, T., Dahl, N., Wright, A., Chapelle, A. dela, Alitalo, T., Lenzner, S., Brunner, H.G., Feil, S., Niesler, B., Schulz, U., Pinckers, A.J.L.G., Blankenagel, A., Ruether, K., Kellner, U., Rappold, G.A., Ropers, H.H., Kalscheuer, V.M.M., Berger, W., Trump, D., Walpole, S.M., Nicolaou, A., Gaythor, S.A., Pimenides, D., George, N.D.L., Moore, U.T., Yates, J.R.W.
المصدر: Human Molecular Genetics, 7, pp. 1185-1192
Human Molecular Genetics, 7, 1185-1192مصطلحات موضوعية: Bestudering van de structuur-functie relatie voor het choroideremie gen gelegen in Xq21, Positionele klonering van genen betrokken bij X gebonden retinitis pigmentosa en nachtblindheid, Positional cloning of genes underlying X linked retinitis pigmentosa and night blindness, Study of structure-function relationships for the choroideremia gene located in Xq21, Retinal disorders, Netvliesaandoeningen
URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::4a51061c3ec679dd664c5ae725a49cc2
https://hdl.handle.net/2066/189361 -
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المؤلفون: Gesine B. Jaissle, Konrad Kohler, Frank Oerlemans, Frans P.M. Cremers, Hans van Bokhoven, Hans-Hilger Ropers, José A. J. M. van den Hurk, Wiljan Hendriks, Eberhart Zrenner, Klaus Rüther, Bé Wieringa, Jens Hartmann, Dorien J. R. van de Pol
المصدر: Human Molecular Genetics, 6, pp. 851-858
Human Molecular Genetics, 6, 6, pp. 851-858
Human Molecular Genetics, 6, 851-858مصطلحات موضوعية: Male, Blastomeres, Gene mutation, Biology, medicine.disease_cause, Polymerase Chain Reaction, Germline, Choroideremia, 03 medical and health sciences, Mice, 0302 clinical medicine, Targeted insertional mutagenesis in chromosomal DNA of cell lines and the germ line of mice as means to study gene function, Genetics, medicine, Animals, Gerichte mutagenese in chromosomaal DNA van cellijnen en de kiembaan van muizen als middel voor bestudering van genfunctie, Photoreceptor Cells, Allele, GeneralLiterature_REFERENCE(e.g.,dictionaries,encyclopedias,glossaries), Molecular Biology, Gene, Genetics (clinical), X chromosome, 030304 developmental biology, 0303 health sciences, Mutation, Bestudering van de structuur-functie relatie voor het choroideremie gen gelegen in Xq21, Alkyl and Aryl Transferases, General Medicine, medicine.disease, Mice, Inbred C57BL, Disease Models, Animal, Germ Cells, rab GTP-Binding Proteins, Gene Targeting, 030221 ophthalmology & optometry, Eye disorder, Study of structure-function relationships for the choroideremia gene located in Xq21, Female, Carrier Proteins
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::173a8d6b40527e2824e4ea819fe70b6a
https://pubmed.ncbi.nlm.nih.gov/9175730
