Hyperhomocysteinemia due to methionine synthase deficiency, cblG: structure of the MTR gene, genotype diversity, and recognition of a common mutation, P1173L.

doi:10.1086/341354

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Hyperhomocysteinemia due to methionine synthase deficiency, cblG: structure of the MTR gene, genotype diversity, and recognition of a common mutation, P1173L.

American journal of human genetics - 1 Jul 2002

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

Abstract excerpt

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 characterized the structure of the MTR gene, thereby identifying exon-intron boundaries. This enabled amplification of...

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PMID: 12068375
DOI: 10.1086/341354
PMCID: PMC384971

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