Article
Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis.
Annals of neurology - 1 Aug 2006
Basel-Vanagaite Lina, Muncher Liora, Straussberg Rachel, Pasmanik-Chor Metsada, Yahav Michal, Rainshtein Limor, Walsh Christopher A, Magal Nurit, Taub Ellen, Drasinover Valerie, Shalev Hanna, Attia Revital, Rechavi Gideon, Simon Amos J, Shohat Mordechai
Abstract excerpt
OBJECTIVE: The objective of this study was to identify the gene causing autosomal recessive infantile bilateral striatal necrosis. METHODS: We have mapped the disease gene in the candidate region to approximately 230kb on 19q13.33 in 8 interrelated families including a total of 12 patients and 39 unaffected individuals. RESULTS: Sequencing of the nup62 gene showed a missense mutation causing a change from...
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