Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics.

Tabatabaie, L; de Koning, T J; Geboers, A J J M; van den Berg, I E T; Berger, R; Klomp, L W J

Tabatabaie, L; de Koning, T J; Geboers, A J J M; van den Berg, I E T; Berger, R; Klomp, L W J.

Affiliation

Tabatabaie L; Department of Metabolic and Endocrine Diseases, UMC Utrecht, and Netherlands Metabolomics Centre, The Netherlands.

Hum Mutat ; 30(5): 749-56, 2009 May.

Article in En | MEDLINE | ID: mdl-19235232

Subject(s)

Mutation/genetics; Phosphoglycerate Dehydrogenase/genetics; Phosphoglycerate Dehydrogenase/metabolism; Base Sequence; Cell Line; Crystallography, X-Ray; DNA Mutational Analysis; Female; Fibroblasts/enzymology; Fibroblasts/pathology; Humans; Kinetics; Male; Molecular Sequence Data; Mutation, Missense/genetics; Phosphoglycerate Dehydrogenase/chemistry; Protein Processing, Post-Translational; Protein Structure, Secondary; Transfection

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phosphoglycerate Dehydrogenase / Mutation Type of study: Prognostic_studies Limits: Female / Humans / Male Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2009 Document type: Article Affiliation country: Netherlands Country of publication: United States

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