RYR1 mutations in UK central core disease patients: more than just the C-terminal transmembrane region of the RYR1 gene.
Academic Unit of Anaesthesia, Clinical Sciences Building, St James University Hospital, Leeds, UK.
S
S
Shepherd
F
F
Ellis
J
J
Halsall
P
P
Hopkins
R
R
Robinson
D000293:Adolescent; D000328:Adult; D002462:Cell Membrane / Q000378:metabolism*; D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D008040:Genetic Linkage / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D020512:Myopathy, Central Core / Q000453:epidemiology / Q000235:genetics*; D017434:Protein Structure, Tertiary; D019837:Ryanodine Receptor Calcium Release Channel / Q000737:chemistry* / Q000235:genetics*; D006113:United Kingdom / Q000453:epidemiology
D019837:Ryanodine Receptor Calcium Release Channel