A novel c.5308_5311delGAGA mutation in Senataxin in a Cypriot family with an autosomal recessive cerebellar ataxia

• Asıl Yazarlar: Zamba-Papanicolaou Eleni (Yazar), Middleton Lefkos T (Yazar), Votsi Christina (Yazar), Georghiou Anthi (Yazar), Nicolaou Paschalis (Yazar), Christodoulou Kyproula (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: BMC, 2008-04-01T00:00:00Z.
• Konular: article
• Online Erişim: Connect to this object online.

<p>Abstract</p> <p>Background</p> <p>Senataxin (chromosome 9q34) was recently identified as the causative gene for an autosomal recessive form of Ataxia (ARCA), termed as Ataxia with Oculomotor Apraxia, type 2 (AOA2) and characterized by generalized incoordination, cere...