Functional analysis of <i>GALT</i> variants found in classic galactosemia patients using a novel cell-free translation method.

Canson, Daffodil M; Silao, Catherine Lynn T; Caoili, Salvador Eugenio C

Functional analysis of GALT variants found in classic galactosemia patients using a novel cell-free translation method.

Canson, Daffodil M; Silao, Catherine Lynn T; Caoili, Salvador Eugenio C.

Afiliação

Canson DM; Institute of Human Genetics, National Institutes of Health University of the Philippines Manila Manila Philippines.
Silao CLT; Department of Biochemistry and Molecular Biology, College of Medicine University of the Philippines Manila Manila Philippines.
Caoili SEC; Institute of Human Genetics, National Institutes of Health University of the Philippines Manila Manila Philippines.

JIMD Rep ; 48(1): 60-66, 2019 Jul.

Article em En | MEDLINE | ID: mdl-31392114

Palavras-chave

GALT deficiency; HeLabased cellfree expression system; classic galactosemia; galactose1phosphate uridylyltransferase; missense variants

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: JIMD Rep Ano de publicação: 2019 Tipo de documento: Article

Texto completo

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PubMed Links

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: JIMD Rep Ano de publicação: 2019 Tipo de documento: Article