Biochemical and molecular characterization of GALT gene from Indian galactosemia patients: identification of 10 novel mutations and their structural and functional implications.

Singh, Ramandeep; Thapa, Babu R; Kaur, Gurjit; Prasad, Rajendra

Singh, Ramandeep; Thapa, Babu R; Kaur, Gurjit; Prasad, Rajendra.

Affiliation

Singh R; Department of Biochemistry, Postgraduate Institute of Medical Education and Research, Chandigarh 160012, India.

Clin Chim Acta ; 414: 191-6, 2012 Dec 24.

Article in En | MEDLINE | ID: mdl-23022339

Subject(s)

Galactosemias/enzymology; UTP-Hexose-1-Phosphate Uridylyltransferase/genetics; Galactosemias/diagnosis; Galactosemias/metabolism; Humans; India; Infant; Mutation, Missense; UTP-Hexose-1-Phosphate Uridylyltransferase/chemistry; UTP-Hexose-1-Phosphate Uridylyltransferase/metabolism

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: UTP-Hexose-1-Phosphate Uridylyltransferase / Galactosemias Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans / Infant Country/Region as subject: Asia Language: En Journal: Clin Chim Acta Year: 2012 Document type: Article Affiliation country: India Country of publication: Netherlands

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