[Discovery of the gene defect in fragile X syndrome reveals a new mode of inheritance and improves diagnosis].
H
H
von Koskull
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J
Leisti
D051860:Fragile X Messenger Ribonucleoprotein 1; D005600:Fragile X Syndrome / Q000175:diagnosis / Q000235:genetics*; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D009419:Nerve Tissue Proteins / Q000302:isolation & purification*; D016601:RNA-Binding Proteins / Q000302:isolation & purification*; D013329:Structure-Activity Relationship
D051860:Fragile X Messenger Ribonucleoprotein 1; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; C497683:FMR1 protein, human
Fragiili-X-oireyhtymän geenivian selviäminen paljastaa uuden tautien periytymismekanismin ja parantaa diagnostiikkaa.