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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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主要な著者: | , , , , , , , , , |
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フォーマット: | Artigo |
言語: | Inglês |
出版事項: |
The American Society of Human Genetics
2000
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主題: | |
オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1288087/ https://ncbi.nlm.nih.gov/pubmed/10677294 |
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