First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan children

We report three symptomatic children with profound biotinidase deficiency from Sri Lanka. All three children presented with typical clinical features of the disorder. The first is homozygous for a missense mutation in the BTD gene (c.98_104 del7insTCC; p.Cys33PhefsX36) that is commonly seen in the w...

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發表在:Mol Genet Metab Rep
Main Authors: Senanayake, Danika Nadeen, Jasinge, Eresha. A., Pindolia, Kirit, Wanigasinghe, Jithangi, Monaghan, Kristin, Suchy, Sharon F., Wei, Sainan, Jaysena, Subashini, Wolf, Barry
格式: Artigo
語言:Inglês
出版: Elsevier 2015
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Research Paper
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC5471155/
https://ncbi.nlm.nih.gov/pubmed/28649532
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2015.01.005
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