A Novel Homozygous p.L539F Mutation Identified in PINK1 Gene in a Moroccan Patient with Parkinsonism.

Ben El Haj, Rafiqua

A Novel Homozygous p.L539F Mutation Identified in PINK1 Gene in a Moroccan Patient with Parkinsonism. [electronic resource] - BioMed research international 2016 - 3460234 p. digital

Publication Type: Case Reports; Journal Article

2314-6141

10.1155/2016/3460234 doi


Amino Acid Motifs
Chromosomes--ultrastructure
Cognition Disorders--genetics
Computational Biology
Disease Progression
Exons
Homozygote
Humans
Leucine-Rich Repeat Serine-Threonine Protein Kinase-2--genetics
Levodopa--therapeutic use
Male
Middle Aged
Morocco
Mutation
Mutation, Missense
Oligonucleotide Array Sequence Analysis
Parkinson Disease--drug therapy
Pedigree
Phenotype
Protein Domains
Protein Kinases--genetics
Sequence Analysis, DNA