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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Detalhes bibliográficos
Publicado no: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
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2015
Assuntos:
Research Paper
Acesso em linha: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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