TY  - GEN
AU  - Wilson,Gabrielle R
AU  - Sim,Joe C H
AU  - McLean,Catriona
AU  - Giannandrea,Maila
AU  - Galea,Charles A
AU  - Riseley,Jessica R
AU  - Stephenson,Sarah E M
AU  - Fitzpatrick,Elizabeth
AU  - Haas,Stefan A
AU  - Pope,Kate
AU  - Hogan,Kirk J
AU  - Gregg,Ronald G
AU  - Bromhead,Catherine J
AU  - Wargowski,David S
AU  - Lawrence,Christopher H
AU  - James,Paul A
AU  - Churchyard,Andrew
AU  - Gao,Yujing
AU  - Phelan,Dean G
AU  - Gillies,Greta
AU  - Salce,Nicholas
AU  - Stanford,Lynn
AU  - Marsh,Ashley P L
AU  - Mignogna,Maria L
AU  - Hayflick,Susan J
AU  - Leventer,Richard J
AU  - Delatycki,Martin B
AU  - Mellick,George D
AU  - Kalscheuer,Vera M
AU  - D'Adamo,Patrizia
AU  - Bahlo,Melanie
AU  - Amor,David J
AU  - Lockhart,Paul J
TI  - Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology
SN  - 1537-6605
PY  - 2015///0227
KW  - Amino Acid Substitution
KW  - Australia
KW  - Base Sequence
KW  - Dopamine
KW  - metabolism
KW  - Female
KW  - Gene Expression Regulation
KW  - Genes, X-Linked
KW  - Humans
KW  - Intellectual Disability
KW  - genetics
KW  - Lewy Bodies
KW  - Male
KW  - Middle Aged
KW  - Models, Molecular
KW  - Molecular Sequence Data
KW  - Mutation, Missense
KW  - Nerve Degeneration
KW  - Parkinson Disease
KW  - Pedigree
KW  - Sequence Analysis, DNA
KW  - Sequence Deletion
KW  - Substantia Nigra
KW  - physiopathology
KW  - alpha-Synuclein
KW  - rab GTP-Binding Proteins
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.ajhg.2014.10.015
ER  -