Title : CblE type of homocystinuria: mild clinical phenotype in two patients homozygous for a novel mutation in the MTRR gene.

Pub. Date : 2003

PMID : 12971424






1 Functional Relationships(s)
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1 Genetic analysis confirmed that both patients are homozygous for a novel mutation c.1361C>T in the methionine synthase reductase gene leading to a replacement of serine by leucine (S454L) in a highly conserved FAD-binding domain. Leucine 5-methyltetrahydrofolate-homocysteine methyltransferase reductase Homo sapiens