Point mutations (Thr240Arg and Gln311Stop) [correction of Thr240Arg and Ala311Stop] in the Parkin gene

Autosomal recessive juvenile parkinsonism (AR-JP) is a distinct clinical and genetic entity characterized by selective degeneration of nigral neurons. Recently, the parkin gene responsible for AR-JP has been identified. To date, we found two different deletional mutations including single and multip...

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Veröffentlicht in:	Biochemical and biophysical research communications 1998-08, Vol.249 (3), p.754-758
Hauptverfasser:	Hattori, N, Matsumine, H, Asakawa, S, Kitada, T, Yoshino, H, Elibol, B, Brookes, A J, Yamamura, Y, Kobayashi, T, Wang, M, Yoritaka, A, Minoshima, S, Shimizu, N, Mizuno, Y
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Amino Acid Sequence Base Sequence Codon, Terminator - genetics Consanguinity DNA Primers - genetics Exons Female Genes, Recessive Humans Ligases Male parkin Parkinson Disease - genetics parkinsonism Pedigree Point Mutation Polymerase Chain Reaction Polymorphism, Restriction Fragment Length Proteins - chemistry Proteins - genetics Turkey Ubiquitin-Protein Ligases
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