Expanding phenotype and clinical heterogeneity in patients with identical mutation of the parkin gene.
Kunishige
Makoto
M
Department of Medicine and Bioregulatory Sciences, University of Tokushima Graduate School of Medicine, Tokushima, Japan. kuni@clin.med.tokushima-u.ac.jp
Mitsui
Takao
T
Kuroda
Yukiko
Y
Yoshida
Sumiko
S
Kosaka
Masaaki
M
Matsumoto
Toshio
T
D015139:Blotting, Southern / Q000379:methods; D001921:Brain / Q000473:pathology; D002524:Cerebellar Ataxia / Q000235:genetics* / Q000473:pathology; D004252:DNA Mutational Analysis / Q000379:methods; D005091:Exons / Q000235:genetics; D005192:Family Health; D005260:Female; D006579:Heterozygote; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D008875:Middle Aged; D009154:Mutation; D020734:Parkinsonian Disorders / Q000235:genetics* / Q000473:pathology; D010641:Phenotype; D012333:RNA, Messenger / Q000096:biosynthesis; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
D012333:RNA, Messenger; D044767:Ubiquitin-Protein Ligases; C111567:parkin protein