Friedreich's ataxia: a new mutation in two compound heterozygous siblings with unusual clinical onset.
Lamba
Laura Doria
LD
Ciotti
Paola
P
Giribaldi
Gaia
G
Di Maria
Emilio
E
Varese
Alessandra
A
Di Stadio
Mauro
M
Schenone
Angelo
A
Mandich
Paola
P
Bellone
Emilia
E
D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005260:Female; D005621:Friedreich Ataxia / Q000175:diagnosis / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007438:Introns; D033862:Iron-Binding Proteins / Q000235:genetics*; D008297:Male; D017354:Point Mutation; D022821:RNA Splice Sites; D035781:Siblings; D019680:Trinucleotide Repeat Expansion; D055815:Young Adult; D000096923:Frataxin
D033862:Iron-Binding Proteins; D022821:RNA Splice Sites; D000096923:Frataxin