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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...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5471155/ https://www.ncbi.nlm.nih.gov/pubmed/28649532 http://dx.doi.org/10.1016/j.ymgmr.2015.01.005 |