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Carmen Ayuso

Carmen Ayuso

Fundacion Jimenez Diaz - Madrid / Spain
Natural Sciences / Molecular Biology & Genetics
AD Scientific Index ID: 4990935
Fundació Jimenez Diaz
person_outline Carmen Ayuso's MOST POPULAR ARTICLES
1-) OPA1 mutations induce mitochondrial DNA instability and optic atrophy ‘plus’ phenotypes Brain 131 (2), 338-351, 2008
2-) Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence Nature genetics 41 (3), 359-364, 2009
3-) Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa Science 280 (5370), 1753-1757, 1998
4-) CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion Neurology 78 (10), 690-695, 2012
5-) Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR Nature Publishing Group, 1998