Open AccessBiallelic MCM3AP mutations cause Charcot-Marie-Tooth neuropathy with variable clinical presentation
Author(s) -
Mert Karakaya,
Neda Mazaheri,
İpek Polat,
Diana BharuchaGoebel,
Sandra Donkervoort,
Reza Maroofian,
Gholamreza Shariati,
Irmgard Hoelker,
Kristin G. Monaghan,
Sara Winchester,
Robert Zori,
Hamid Galehdari,
Carsten G. Bönnemann,
Uluç Yiş,
Brunhilde Wirth
Publication year - 2017
Publication title -
brain
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 5.142
H-Index - 336
eISSN - 1460-2156
pISSN - 0006-8950
DOI - 10.1093/brain/awx222
Subject(s) - tooth disease , presentation (obstetrics) , medicine , neuroscience , genetics , pathology , psychology , biology , surgery , disease
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