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Article

Mutation spectrum in the French cohort of galactosemic patients and structural simulation of 27 novel missense variations.

Molecular genetics and metabolism - 1 Nov 2012

Boutron Audrey, Marabotti Anna, Facchiano Angelo, Cheillan David, Zater Mokhtar, Oliveira Christophe, Costa Catherine, Labrune Philippe, Brivet Michèle

Abstract excerpt

BACKGROUND: Classic galactosemia refers to galactose-1-phosphate uridyltransferase (GALT) deficiency and is characterized by long-term complications of unknown mechanism and high allelic heterogeneity of GALT gene. AIM: To report molecular characterization of GALT variations in 210 French families, to analyze the structural effects of novel missense variations and to assess informativity of structural data in...

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Identifiers

PMID: 22944367
DOI: 10.1016/j.ymgme.2012.07.025

Genes

GALT

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