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Article

ST3GAL3 mutations impair the development of higher cognitive functions.

American journal of human genetics - 9 Sept 2011

Hu Hao, Eggers Katinka, Chen Wei, Garshasbi Masoud, Motazacker M Mahdi, Wrogemann Klaus, Kahrizi Kimia, Tzschach Andreas, Hosseini Masoumeh, Bahman Ideh, Hucho Tim, Mühlenhoff Martina, Gerardy-Schahn Rita, Najmabadi Hossein, Ropers H Hilger, Kuss Andreas W

Abstract excerpt

The genetic variants leading to impairment of intellectual performance are highly diverse and are still poorly understood. ST3GAL3 encodes the Golgi enzyme β-galactoside-α2,3-sialyltransferase-III that in humans predominantly forms the sialyl Lewis a epitope on proteins. ST3GAL3 resides on chromosome 1 within the MRT4 locus previously identified to associate with nonsyndromic autosomal recessive intellectual...

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Identifiers

PMID: 21907012
DOI: 10.1016/j.ajhg.2011.08.008
PMCID: PMC3169827

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