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2011 | 1 |
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A novel mitofusin 2 mutation causes canine fetal-onset neuroaxonal dystrophy.
Neurogenetics. 2011 Aug;12(3):223-32. doi: 10.1007/s10048-011-0285-6. Epub 2011 Jun 4.
Neurogenetics. 2011.
PMID: 21643798
Free PMC article.
HAX1 mutations causing severe congenital neuropenia and neurological disease lead to cerebral microstructural abnormalities documented by quantitative MRI.
Boztug K, Ding XQ, Hartmann H, Ziesenitz L, Schäffer AA, Diestelhorst J, Pfeifer D, Appaswamy G, Kehbel S, Simon T, Al Jefri A, Lanfermann H, Klein C.
Boztug K, et al.
Am J Med Genet A. 2010 Dec;152A(12):3157-63. doi: 10.1002/ajmg.a.33748.
Am J Med Genet A. 2010.
PMID: 21108402
Free PMC article.
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