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Start Over Author "Norci, V." Publication Type Magazines
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2. Expansion of the first PolyA tract of ARXcauses infantile spasms and status dystonicus

Author

Guerrini, R, Moro, F, Kato, M, Barkovich, A J., Shiihara, T, McShane, M A., Hurst, J, Loi, M, Tohyama, J, Norci, V, Hayasaka, K, Kang, U J., Das, S, and Dobyns, W B.

Abstract

ARXis a paired-type homeobox gene located on the X chromosome that contains five exons with four polyalanine (PolyA) tracts, a homeodomain, and a conserved C-terminal aristaless domain. Studies in humans have demonstrated remarkable pleiotropy: malformation phenotypes are associated with protein truncation mutations and missense mutations in the homeobox; nonmalformation phenotypes, including X-linked infantile spasms (ISS), are associated with missense mutations outside of the homeobox and expansion of the PolyA tracts.

Published
2007
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