المؤلفون: Haack T. B., Danhauser K., Haberberger B., Hoser J., Strecker V., Boehm D., Uziel G., Lamantea E., Invernizzi F., Poulton J., Rolinski B., Iuso A., Biskup S., Schmidt T., Mewes H. -W., Wittig I., Meitinger T., Zeviani M., Prokisch H.

المساهمون: Haack, T. B., Danhauser, K., Haberberger, B., Hoser, J., Strecker, V., Boehm, D., Uziel, G., Lamantea, E., Invernizzi, F., Poulton, J., Rolinski, B., Iuso, A., Biskup, S., Schmidt, T., Mewes, H. -W., Wittig, I., Meitinger, T., Zeviani, M., Prokisch, H.

مصطلحات موضوعية: Acyl-CoA Dehydrogenase, Amino Acid Sequence, Cell Line, Child, Preschool, Electron Transport Complex I, Electrophoresis, Gel, Two-Dimensional, Exon, Female, Fibroblast, Genetic Complementation Test, Human, Infant, Male, Molecular Sequence Data, Mutation, Riboflavin, Transduction, Genetic, Sequence Analysis, DNA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/21057504; info:eu-repo/semantics/altIdentifier/wos/WOS:000284578800018; volume:42; issue:12; firstpage:1131; lastpage:1134; numberofpages:4; journal:NATURE GENETICS; http://hdl.handle.net/11577/3354270Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-78649474742

الإتاحة: https://doi.org/10.1038/ng.706Test
http://hdl.handle.net/11577/3354270Test

المؤلفون: CATANIA, ALESSIA, Ardissone, Anna, Verrigni, Daniela, Legati, Andrea, Reyes, Aurelio, Lamantea, Eleonora, DIodato, Daria, Tonduti, Davide, Imperatore, Valentina, Pinto, Anna Maria, Moroni, Isabella, Bertini, Enrico, Robinson, Alan, Carrozzo, Rosalba, Zeviani, Massimo, Ghezzi, Daniele

المساهمون: Catania, A, Ardissone, A, Verrigni, D, Legati, A, Reyes, A, Lamantea, E, Diodato, D, Tonduti, D, Imperatore, V, Pinto, A, Moroni, I, Bertini, E, Robinson, A, Carrozzo, R, Zeviani, M, Ghezzi, D

مصطلحات موضوعية: Genetic, Genetics (clinical)

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29531337; info:eu-repo/semantics/altIdentifier/wos/WOS:000431185600003; volume:63; issue:5; firstpage:563; lastpage:568; numberofpages:6; journal:JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/10281/205491Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85045654596; http://www.nature.com/jhg/archive/index.htmlTest

الإتاحة: https://doi.org/10.1038/s10038-018-0423-1Test
http://hdl.handle.net/10281/205491Test
http://www.nature.com/jhg/archive/index.htmlTest

المؤلفون: Anna Ardissone, Valentina Imperatore, Andrea Legati, Eleonora Lamantea, Daniela Verrigni, Isabella Moroni, Aurelio Reyes, Alan J. Robinson, Davide Tonduti, Anna Maria Pinto, Daniele Ghezzi, Massimo Zeviani, Daria Diodato, Rosalba Carrozzo, Alessia Catania, Enrico Bertini

المساهمون: Catania, A, Ardissone, A, Verrigni, D, Legati, A, Reyes, A, Lamantea, E, Diodato, D, Tonduti, D, Imperatore, V, Pinto, A, Moroni, I, Bertini, E, Robinson, A, Carrozzo, R, Zeviani, M, Ghezzi, D, Diodato, Daria [0000-0003-3607-8523], Ghezzi, Daniele [0000-0002-6564-3766], Apollo - University of Cambridge Repository

المصدر: Journal of human genetics

مصطلحات موضوعية: 0301 basic medicine, Male, Heterozygote, Messenger, Mutation, Missense, Gene Expression, Biology, Compound heterozygosity, medicine.disease_cause, Article, Whole Exome Sequencing, Mitochondrial Proteins, 03 medical and health sciences, Genetic, Exome Sequencing, medicine, Genetics, Missense mutation, Humans, RNA, Messenger, Lymphocytes, Allele, Leigh disease, Child, Preschool, Exome sequencing, Alleles, Genetics (clinical), Mutation, Haplotype, Intron, Infant, Fibroblasts, medicine.disease, Magnetic Resonance Imaging, Introns, Pedigree, 030104 developmental biology, Phenotype, Haplotypes, Child, Preschool, Female, Leigh Disease, RNA, Missense

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12e017a0b553068281dd54336b48cd15Test
http://hdl.handle.net/11577/3294651Test