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Article

Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase.

Human molecular genetics - 1 May 2009

Carney Amanda E, Sanders Rebecca D, Garza Kerry R, McGaha Lee Anne, Bean Lora J H, Coffee Bradford W, Thomas James W, Cutler David J, Kurtkaya Natalie L, Fridovich-Keil Judith L

Abstract excerpt

Duarte galactosemia is a mild to asymptomatic condition that results from partial impairment of galactose-1-phosphate uridylyltransferase (GALT). Patients with Duarte galactosemia demonstrate reduced GALT activity and carry one profoundly impaired GALT allele (G) along with a second, partially impaired GALT allele (Duarte-2, D2). Molecular studies reveal at least five sequence changes on D2 alleles: a p.N314D...

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Source

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Identifiers

PMID: 19224951
DOI: 10.1093/hmg/ddp080
PMCID: PMC2667289

Genes

GALT

Provenance

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Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase.PMID 19224951Read ↗

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