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Volumn 78, Issue 5, 2010, Pages 441-448

Molecular characterization of five patients with homocystinuria due to severe methylenetetrahydrofolate reductase deficiency

Author keywords

Homocystinuria; Mefolinate treatment; MTHFR deficiency; Mutations; NMD; Structure modelling

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); ALANINE; BETAINE; FOLINIC ACID; GLYCINE; MESSENGER RNA; THREONINE; VALINE;

EID: 78149261928     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2010.01391.x     Document Type: Article
Times cited : (21)

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