Methionine Adenosyltransferase I/III Deficiency: Novel Mutationsand Clinical Variations

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, although a number of individuals with homozygous null...

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Главные авторы: Chamberlin, Margaret E., Ubagai, Tsuneyuki, Mudd, S. Harvey, Thomas, Janet, Pao, Vivian Y., Nguyen, Thien K., Levy, Harvey L., Greene, Carol, Freehauf, Cynthia, Chou, Janice Yang
Формат: Artigo
Язык:Inglês
Опубликовано: The American Society of Human Genetics 2000
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Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC1288087/
https://ncbi.nlm.nih.gov/pubmed/10677294
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