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المؤلفون: Tracey P. Leedom, Douglas A. Marchuk, Christina L. Liquori, Eric W. Johnson, Michel J. Berg, Louis J. Ptáček, Ferdinando Squitieri
المصدر: The American Journal of Human Genetics. 80:69-75
مصطلحات موضوعية: Male, Proband, Hemangioma, Cavernous, Central Nervous System, Genetic Linkage, Sequence analysis, Biology, medicine.disease_cause, Article, Exon, Genetic linkage, Proto-Oncogene Proteins, Genetics, medicine, Humans, Genetics(clinical), KRIT1 Protein, Gene, Genetics (clinical), Mutation, Brain Neoplasms, Haplotype, Intron, Molecular biology, Pedigree, Female, Carrier Proteins, Microtubule-Associated Proteins
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2985d057c78d4ba8ab1e6fe32254e135Test
https://doi.org/10.1086/510439Test -
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المؤلفون: Fiyinfolu Balogun, Louis J. Ptáček, T’Prien Stoffer, Vittorio Maglione, Elizabeth Huang, Jon S. Zawistowski, Adrian M. Siegel, Nicholas W. Plummer, Tracey P. Leedom, Eric W. Johnson, Dominique J. Verlaan, Christina L. Liquori, Lori Hughes, Ferdinando Squitieri, Douglas A. Marchuk, Michel J. Berg, Milena Cannella, Guy A. Rouleau
المصدر: The American Journal of Human Genetics. 73(6):1459-1464
مصطلحات موضوعية: Programmed cell death 10, Integrins, Microtubule-associated protein, Integrin, Central nervous system, medicine.disease_cause, Proto-Oncogene Proteins, Report, medicine, Morphogenesis, Genetics, Humans, Genetic Predisposition to Disease, Genetics(clinical), Gene, KRIT1 Protein, Genetics (clinical), Central Nervous System Vascular Malformations, Mutation, biology, Reverse Transcriptase Polymerase Chain Reaction, Brain, Chromosome Mapping, Sequence Analysis, DNA, Blotting, Northern, Molecular biology, Magnetic Resonance Imaging, medicine.anatomical_structure, biology.protein, biology.gene, Signal transduction, Phosphotyrosine-binding domain, Microtubule-Associated Proteins, Signal Transduction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c85573c052210efee778219c26686896Test