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Novel biallelic variants expand the SLC5A6-related phenotypic spectrum

The sodium (Na(+)):multivitamin transporter (SMVT), encoded by SLC5A6, belongs to the sodium:solute symporter family and is required for the Na(+)-dependent uptake of biotin (vitamin B7), pantothenic acid (vitamin B5), the vitamin-like substance α-lipoic acid, and iodide. Compound heterozygous SLC5A...

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Detalles Bibliográficos
Autores principales:	Holling, Tess, Nampoothiri, Sheela, Tarhan, Bedirhan, Schneeberger, Pauline E., Vinayan, Kollencheri Puthenveettil, Yesodharan, Dhanya, Roy, Arun Grace, Radhakrishnan, Periyasamy, Alawi, Malik, Rhodes, Lindsay, Girisha, Katta Mohan, Kang, Peter B., Kutsche, Kerstin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer International Publishing 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8747999/ https://www.ncbi.nlm.nih.gov/pubmed/35013551 http://dx.doi.org/10.1038/s41431-021-01033-2

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