Articles by author - Stefanie Krilová

Concomitancy of mutation in FRDA gene and FMR1 premutation in 58 year-old woman.

Zumrová A, Mazanec R, Vyhnálek M, Krepelová A, Musová Z, Krilová S, Appltová L, Havlovicová M.

Journal Article 2005; 26(1): 71-74 PubMed PMID: 15726025  Keywords:  DNA:genetics, Female, Fragile X Mental Retardation Protein, Fragile X Syndrome:complications, Friedreich Ataxia:genetics, Gait Ataxia:etiology, Humans, Iron-Binding Proteins:genetics, Middle Aged, Mutation:physiology, Nerve Tissue Proteins:genetics, Pheno.    Citation

: DNA testing broadens diagnostic tools available for hereditary ataxias. However, together with current knowledge of genes and their muta.....

Read abstract  Full text PDF