المؤلفون: Lassuthova, Petra, Rebelo, Adriana P., Ravenscroft, Gianina, Lamont, Phillipa J., Davis, Mark R., Manganelli, Fiore, Feely, Shawna M., Bacon, Chelsea, Brožková, Dana Šafka, Haberlova, Jana, Mazanec, Radim, Tao, Feifei, Saghira, Cima, Abreu, Lisa, Courel, Steve, Powell, Eric, Buglo, Elena, Bis, Dana M., Baxter, Megan F., Ong, Royston W., Marns, Lorna, Lee, Yi-Chung, Bai, Yunhong, Isom, Daniel G., Barro-Soria, René, Chung, Ki W., Scherer, Steven S., Larsson, H. Peter, Laing, Nigel G., Choi, Byung-Ok, Seeman, Pavel, Shy, Michael E., Santoro, Lucio, Zuchner, Stephan

المساهمون: Lassuthova, Petra, Rebelo, Adriana P., Ravenscroft, Gianina, Lamont, Phillipa J., Davis, Mark R., Manganelli, Fiore, Feely, Shawna M., Bacon, Chelsea, Brožková, Dana Šafka, Haberlova, Jana, Mazanec, Radim, Tao, Feifei, Saghira, Cima, Abreu, Lisa, Courel, Steve, Powell, Eric, Buglo, Elena, Bis, Dana M., Baxter, Megan F., Ong, Royston W., Marns, Lorna, Lee, Yi-Chung, Bai, Yunhong, Isom, Daniel G., Barro-Soria, René, Chung, Ki W., Scherer, Steven S., Larsson, H. Peter, Laing, Nigel G., Choi, Byung-Ok, Seeman, Pavel, Shy, Michael E., Santoro, Lucio, Zuchner, Stephan

مصطلحات موضوعية: ATP1A1, axonal neuropathy, Charcot-Marie-Tooth, CMT, genetic matchmaking, Mendelian disease, Na+,K+ATPase, Genetic, Genetics (clinical)

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000426469600021; volume:102; issue:3; firstpage:505; lastpage:514; numberofpages:10; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11588/705784Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85042606258; http://www.elsevier.com/wps/find/journaldescription.cws_home/713561/description#descriptionTest

الإتاحة: https://doi.org/10.1016/j.ajhg.2018.01.023Test
http://hdl.handle.net/11588/705784Test
http://www.elsevier.com/wps/find/journaldescription.cws_home/713561/description#descriptionTest

المؤلفون: Dana Šafka Brožková, Rene Barro-Soria, H. Peter Larsson, Petra Laššuthová, Shawna M. E. Feely, Pavel Seeman, Eric Powell, Yi-Chung Lee, Elena Buglo, Daniel G. Isom, Cima Saghira, Feifei Tao, Royston Ong, Yunhong Bai, Steven S. Scherer, Lorna Marns, Chelsea Bacon, Gianina Ravenscroft, Megan F. Baxter, Lisa Abreu, Stephan Züchner, Jana Haberlová, Phillipa J. Lamont, Adriana P. Rebelo, Fiore Manganelli, Mark R. Davis, Lucio Santoro, Steve Courel, Ki Wha Chung, Dana M. Bis, Radim Mazanec, Michael E. Shy, Byung Ok Choi, Nigel G. Laing

المساهمون: Lassuthova, Petra, Rebelo, Adriana P., Ravenscroft, Gianina, Lamont, Phillipa J., Davis, Mark R., Manganelli, Fiore, Feely, Shawna M., Bacon, Chelsea, Brožková, Dana Šafka, Haberlova, Jana, Mazanec, Radim, Tao, Feifei, Saghira, Cima, Abreu, Lisa, Courel, Steve, Powell, Eric, Buglo, Elena, Bis, Dana M., Baxter, Megan F., Ong, Royston W., Marns, Lorna, Lee, Yi-Chung, Bai, Yunhong, Isom, Daniel G., Barro-Soria, René, Chung, Ki W., Scherer, Steven S., Larsson, H. Peter, Laing, Nigel G., Choi, Byung-Ok, Seeman, Pavel, Shy, Michael E., Santoro, Lucio, Zuchner, Stephan

المصدر: The American Journal of Human Genetics. 102:505-514

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Charcot-Marie-Tooth, axonal neuropathy, Protein subunit, Mutant, Xenopus, Biology, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Genetic, Charcot-Marie-Tooth Disease, Report, Genetics, Humans, Missense mutation, Family, Amino Acid Sequence, Na+,K+ATPase, Na+/K+-ATPase, Child, Gene, Genetics (clinical), Aged, Genes, Dominant, Aged, 80 and over, CMT, genetic matchmaking, ATP1A1, Middle Aged, biology.organism_classification, Molecular biology, Axolemma, Pedigree, 030104 developmental biology, Mutation, Female, Mendelian disease, Sodium-Potassium-Exchanging ATPase, 030217 neurology & neurosurgery, Immunostaining

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7cedc66075ce50765bde1ecbd17fed84Test
https://doi.org/10.1016/j.ajhg.2018.01.023Test