Mutatednup62causes autosomal recessive infantile bilateral striatal necrosis
نویسندگان
چکیده
منابع مشابه
Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis.
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...
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ژورنال
عنوان ژورنال: Annals of Neurology
سال: 2006
ISSN: 0364-5134,1531-8249
DOI: 10.1002/ana.20902