Premium
A novel mutation in SLC25A46 causes optic atrophy and progressive limb spasticity, with no cerebellar atrophy or axonal neuropathy
Author(s) -
Sulaiman R.A.,
Patel N.,
Alsharif H.,
Arold S.T.,
Alkuraya F.S.
Publication year - 2017
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.12963
Subject(s) - atrophy , spasticity , medicine , cerebellum , mutation , neuroscience , anatomy , pathology , physical medicine and rehabilitation , biology , genetics , gene
Accelerating Research
Robert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom
Address
John Eccles HouseRobert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom