Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Parkinson disease 6, early onset

OMIM:605909
Mode of inheritance:Autosomal recessive
Disease classification:Diseases of the nervous system


Mutations

Gene SymbolPINK1
Reference transcriptNM_032409.2
DNA Changec.1617G>C
A.A. Changep.Leu539Phe
Exon/Intronexon 8
Mutation Typesubstitution
ReferenceBen El Haj R, Regragui W, Tazi-Ahnini R, Skalli A, Bouslam N, Benomar A, Yahyaoui M, Bouhouche A. A Novel Homozygous p.L539F Mutation Identified in PINK1 Gene in a Moroccan Patient with Parkinsonism.
Biomed Res Int. 2016;2016:3460234. doi: 10.1155/2016/3460234. Epub 2016 Jun 20.