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Chamberlin et al., 2000 - Google Patents

Methionine adenosyltransferase I/III deficiency: novel mutationsand clinical variations

Chamberlin et al., 2000

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Document ID
7025050309615538893
Author
Chamberlin M
Ubagai T
Mudd S
Thomas J
Pao V
Nguyen T
Levy H
Greene C
Freehauf C
Chou J
Publication year
Publication venue
The American Journal of Human Genetics

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Summary Methionine adenosyltransferase (MAT) I/III deficiency, caused by mutations in the MAT1A gene, is characterized by persistent hypermethioninemia without elevated homocysteine or tyrosine. Clinical manifestations are variable and poorly understood …
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