The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin
作者： Maria-Céu Moreira , Clara Barbot , Nobutada Tachi , Naoki Kozuka , Eiji Uchida
DOI: 10.1038/NG1001-189
关键词: Gene 、 DNA repair 、 Autosomal recessive cerebellar ataxia 、 Oculomotor apraxia 、 Biology 、 Genetics 、 Aprataxin 、 Nuclear protein 、 Ataxia 、 DNA-binding protein
摘要: … We reduced the critical interval, which still contained ten genes (Fig. 2), by studying new … Levels of serum albumin and total cholesterol were abnormal only after a long disease duration (…
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