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

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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Bibliographic Details
Main Authors: Danika Nadeen Senanayake, Eresha. A. Jasinge, Kirit Pindolia, Jithangi Wanigasinghe, Kristin Monaghan, Sharon F. Suchy, Sainan Wei, Subashini Jaysena, Barry Wolf
Format: Article
Language:English
Published: Elsevier 2015-03-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Biotinidase
Biotinidase deficiency
Contiguous gene deletion
Mutation
Enzyme deficiency
Congenital myasthenic syndrome
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426915000075

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http://www.sciencedirect.com/science/article/pii/S2214426915000075

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