Hyperhomocysteinemia Due to Methionine Synthase Deficiency, cblG: Structure of the MTR Gene, Genotype Diversity, and Recognition of a Common Mutation, P1173L

Mutations in the MTR gene, which encodes methionine synthase on human chromosome 1p43, result in the methylcobalamin deficiency G (cblG) disorder, which is characterized by homocystinuria, hyperhomocysteinemia, and hypomethioninemia. To investigate the molecular basis of the disorder, we have charac...

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Main Authors: Watkins, David, Ru, Ming, Hwang, Hye-Yeon, Kim, Caroline D., Murray, Angus, Philip, Noah S., Kim, William, Legakis, Helen, Wai, Timothy, Hilton, John F., Ge, Bing, Doré, Carole, Hosack, Angela, Wilson, Aaron, Gravel, Roy A., Shane, Barry, Hudson, Thomas J., Rosenblatt, David S.
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2002
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC384971/
https://ncbi.nlm.nih.gov/pubmed/12068375
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