Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology.

Wilson, Gabrielle R

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