Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology. [electronic resource]
- American journal of human genetics Dec 2014
- 729-35 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1537-6605
10.1016/j.ajhg.2014.10.015 doi
Amino Acid Substitution Australia Base Sequence Dopamine--metabolism Female Gene Expression Regulation Genes, X-Linked Humans Intellectual Disability--genetics Lewy Bodies--metabolism Male Middle Aged Models, Molecular Molecular Sequence Data Mutation, Missense Nerve Degeneration--genetics Parkinson Disease--genetics Pedigree Sequence Analysis, DNA Sequence Deletion Substantia Nigra--physiopathology alpha-Synuclein--metabolism rab GTP-Binding Proteins--genetics