Title: | A Mutation of COX6A1 Causes a Recessive Axonal or Mixed Form of Charcot-Marie-Tooth Disease |
Journal : | American journal of human genetics, 95, 3 |
Authors: | Tamiya G ; Makino S ; Hayashi M ; Abe A ; Numakura C ; Ueki M ; Tanaka A ; Ito C ; Toshimori K ; Ogawa N ; Terashima T ; Maegawa H ; Yanagisawa D ; Tooyama I ; Tada M ; Onodera O ; Hayasaka K |
Material Type: | Article |
Publication Date: | 2014 |
Size: | p 294 |
Languages: | English |
Keywords : | axonal forms of CMT ; case studies ; Charcot-Marie-Tooth disease ; complex 4 of the respiratory chain ; family ; genetic mutations ; mouse model |
Pubmed / DOI : | DOI : 10.1016/j.ajhg.2014.07.013 / Pubmed : 25152455 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/25152455 |
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