Article
Mutations in SLC5A6 associated with brain, immune, bone, and intestinal dysfunction in a young child.
Human genetics - 1 Feb 2017
Subramanian Veedamali S, Constantinescu Alexandru R, Benke Paul J, Said Hamid M
Abstract excerpt
The human sodium-dependent multivitamin transporter (hSMVT) is a product of the SLC5A6 gene and mediates biotin, pantothenic acid, and lipoate uptake in a variety of cellular systems. We report here the identification of mutations R94X, a premature termination, and R123L, a dysfunctional amino acid change, both in exon 3 of the SLC5A6 gene in a child using whole genome-scanning. At 15 months of age, the child...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.