Homocystinuria-megaloblastic anemia cblE is an autosomal recessive disturbance of cobalamin metabolism which is caused by stations of the MTRR gene.
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Zavadáková P et al. (2005) cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression. |
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OMIM.ORG article Omim 236270 |