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1999 | 1 |
2015 | 1 |
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Autosomal recessive congenital cerebellar hypoplasia and short stature in a large inbred family.
Am J Med Genet. 1999 Nov 5;87(1):88-90.
Am J Med Genet. 1999.
PMID: 10528257
No abstract available.
PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia.
Jobling RK, Assoum M, Gakh O, Blaser S, Raiman JA, Mignot C, Roze E, Dürr A, Brice A, Lévy N, Prasad C, Paton T, Paterson AD, Roslin NM, Marshall CR, Desvignes JP, Roëckel-Trevisiol N, Scherer SW, Rouleau GA, Mégarbané A, Isaya G, Delague V, Yoon G.
Jobling RK, et al.
Brain. 2015 Jun;138(Pt 6):1505-17. doi: 10.1093/brain/awv057. Epub 2015 Mar 25.
Brain. 2015.
PMID: 25808372
Free PMC article.
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