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Bi-allelic loss-of-function OBSCN variants predispose indiv..:
Cabrera-Serrano, Macarena
;
Caccavelli, Laure
;
Savarese, Marco
...
http://hdl.handle.net/10668/19728. , 2022
Link:
http://hdl.handle.net/10668/19728
RT Journal T1
Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis
UL https://suche.suub.uni-bremen.de/peid=base-ftsspa:oai:www.repositoriosalud.es:10668_19728&Exemplar=1&LAN=DE A1 Cabrera-Serrano, Macarena A1 Caccavelli, Laure A1 Savarese, Marco A1 Vihola, Anna A1 Jokela, Manu A1 Johari, Mridul A1 Capiod, Thierry A1 Madrange, Marine A1 Bugiardini, Enrico A1 Brady, Stefen A1 Quinlivan, Rosaline A1 Merve, Ashirwad A1 Scalco, Renata A1 Hilton-Jones, David A1 Houlden, Henry A1 Aydin, Halil Ibrahim A1 Ceylaner, Serdar A1 Drewes, Sarah A1 Vockley, Jerry A1 Taylor, Rhonda L A1 Folland, Chiara A1 Kelly, Aasta A1 Goullee, Hayley A1 Ylikallio, Emil A1 Auranen, Mari A1 Tyynismaa, Henna A1 Udd, Bjarne A1 Forrest, Alistair R R A1 Davis, Mark R A1 Bratkovic, Drago A1 Manton, Nicholas A1 Robertson, Thomas A1 O'Gorman, Cullen A1 McCombe, Pamela A1 Laing, Nigel G A1 Phillips, Liza A1 de Lonlay, Pascale A1 Ravenscroft, Gianina YR 2022 K1 exercise intolerance K1 hyperCKaemia K1 myalgia K1 obscurin K1 rhabdomyolysis K1 Adolescent K1 Humans K1 Calcium K1 Sarcoplasmic Reticulum K1 Loss of Heterozygosity K1 Protein Serine-Threonine Kinases K1 Rho Guanine Nucleotide Exchange Factors JF http://hdl.handle.net/10668/19728 LK http://hdl.handle.net/10668/19728 DO http://hdl.handle.net/10668/19728 SF ELIB - SuUB Bremen
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