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Cytogenetic characterization of C1300 neuroblastoma cells 总被引:1,自引:0,他引:1
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Moreira MC Klur S Watanabe M Németh AH Le Ber I Moniz JC Tranchant C Aubourg P Tazir M Schöls L Pandolfo M Schulz JB Pouget J Calvas P Shizuka-Ikeda M Shoji M Tanaka M Izatt L Shaw CE M'Zahem A Dunne E Bomont P Benhassine T Bouslam N Stevanin G Brice A Guimarães J Mendonça P Barbot C Coutinho P Sequeiros J Dürr A Warter JM Koenig M 《Nature genetics》2004,36(3):225-227
Ataxia-ocular apraxia 2 (AOA2) was recently identified as a new autosomal recessive ataxia. We have now identified causative mutations in 15 families, which allows us to clinically define this entity by onset between 10 and 22 years, cerebellar atrophy, axonal sensorimotor neuropathy, oculomotor apraxia and elevated alpha-fetoprotein (AFP). Ten of the fifteen mutations cause premature termination of a large DEAxQ-box helicase, the human ortholog of yeast Sen1p, involved in RNA maturation and termination. 相似文献
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