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Biochemical and computational analyses of two phenotypically related GALT mutations (S222N and S135L) that lead to atypical galactosemia
Galactosemia is a metabolic disorder caused by mutations in the GALT gene [1,2]. We encountered a patient heterozygous for a known pathogenic H132Q mutation and a novel S222N variant of unknown significance [3]. Reminiscent of patients with the S135L mutation, our patient had loss of GALT enzyme act...
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出版年: | Data Brief |
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主要な著者: | , , , , , , |
フォーマット: | Artigo |
言語: | Inglês |
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Elsevier
2015
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主題: | |
オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4509990/ https://ncbi.nlm.nih.gov/pubmed/26217714 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.dib.2015.01.001 |
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