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S-Adenosylhomocysteine Hydrolase (AHCY) Deficiency: Two Novel Mutations with Lethal Outcome
This paper reports studies of two novel, allelic missense mutations found in the S-adenosylhomocysteine hydrolase (AHCY) gene from a new case of AHCY deficiency in an infant girl who died at age four months. The mutations lead to replacement of arginine with cysteine (p.Arg49Cys) and aspartic acid w...
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| Asıl Yazarlar: | , , , |
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| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
2009
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2876820/ https://ncbi.nlm.nih.gov/pubmed/19177456 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.20985 |
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