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A novel deletion mutation inCENPJgene in a Pakistani family with autosomal recessive primary microcephaly

✍ Scribed by Asma Gul; Muhammad Jawad Hassan; Sabir Hussain; Syed Irfan Raza; Muhammad Salman Chishti; Wasim Ahmad


Publisher
Nature Publishing Group
Year
2006
Tongue
English
Weight
210 KB
Volume
51
Category
Article
ISSN
1435-232X

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## Abstract Autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS) is an inherited neurodegenerative disorder characterized by early‐onset, spastic ataxia and peripheral neuropathy. It was originally described in an inbred population of Quebec and later in some other countries. We repor