المؤلفون: Di Matteo, Gigliola, Chiriaco, Maria, Scarselli, Alessia, Cifaldi, Cristina, Livadiotti, Susanna, Di Cesare, Silvia, Ferradini, Valentina, Aiuti, Alessandro, Rossi, Paolo, Finocchi, Andrea, Cancrini, Caterina

المساهمون: Di Matteo, Gigliola, Chiriaco, Maria, Scarselli, Alessia, Cifaldi, Cristina, Livadiotti, Susanna, Di Cesare, Silvia, Ferradini, Valentina, Aiuti, Alessandro, Rossi, Paolo, Finocchi, Andrea, Cancrini, Caterina

مصطلحات موضوعية: SCID, Alu repeats recombination, Founder effect, JAK3 novel mutations, Molecular Biology, Genetic, Genetics (clinical)

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000445851700003; volume:6; issue:5; firstpage:713; lastpage:721; numberofpages:9; journal:MOLECULAR GENETICS & GENOMIC MEDICINE; https://hdl.handle.net/20.500.11768/82760Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85050683676; http://onlinelibrary.wiley.com/journal/10.1002Test/(ISSN)2324-9269

الإتاحة: https://doi.org/20.500.11768/82760Test
https://doi.org/10.1002/mgg3.391Test
https://hdl.handle.net/20.500.11768/82760Test

المؤلفون: Silvia Di Cesare, Andrea Finocchi, Caterina Cancrini, Susanna Livadiotti, Alessia Scarselli, Valentina Ferradini, Maria Chiriaco, Cristina Cifaldi, Paolo Rossi, Alessandro Aiuti, Gigliola Di Matteo

المساهمون: Di Matteo, Gigliola, Chiriaco, Maria, Scarselli, Alessia, Cifaldi, Cristina, Livadiotti, Susanna, Di Cesare, Silvia, Ferradini, Valentina, Aiuti, Alessandro, Rossi, Paolo, Finocchi, Andrea, Cancrini, Caterina

المصدر: Molecular Genetics & Genomic Medicine

مصطلحات موضوعية: Male, 0301 basic medicine, Mutation, Missense, Alu element, Alu repeats recombination, Biology, X-Linked Combined Immunodeficiency Diseases, SCID, Compound heterozygosity, 03 medical and health sciences, Monoallelic Mutation, Genetic, Genetics, medicine, Humans, Molecular Biology, Gene, Genetics (clinical), Sequence Deletion, Settore MED/38 - Pediatria Generale e Specialistica, Severe combined immunodeficiency, Base Sequence, JAK3 novel mutation, Haplotype, Infant, Newborn, Infant, Janus Kinase 3, JAK3 novel mutations, Original Articles, Founder effect, Newborn, medicine.disease, 3. Good health, founder effect, 030104 developmental biology, Amino Acid Substitution, Italy, Mutation, Mutation (genetic algorithm), Original Article, Female, Missense

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca2af61d5424771b00dbaf93dff4fa7dTest
https://doi.org/10.1002/mgg3.391Test