Centro Hospitalar do Porto Repositório Científico do Centro Hospitalar do Porto DEFI
 

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Repositório Científico do Centro Hospitalar do Porto >
DA - Departamento de Ambulatório >

SOFT - Serviço de Oftalmologia : [2]

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Homozygosity mapping of Portuguese and Japanese forms of ataxia-oculomotor apraxia to 9p13, and evidence for genetic heterogeneity.

Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.

 

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Centro Hospitalar do Porto (CHP)
Hospital de Santo António (HSA), Maternidade Júlio Dinis (MJD) e Hospital Maria Pia (HMP)
Largo Prof. Abel Salazar, 1, Porto
4099-001 PORTO
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