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Direct genomic PCR sequencing of the high affinity thiamine transporter (SLC19A2) gene identifies three genetic variants in Wernicke Korsakoff syndrome (WKS).

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 5 Aug 2005

Guerrini Irene, Thomson Allan D, Cook Cristopher C H, McQuillin Andrew, Sharma Vishal, Kopelman Michael, Reynolds Gerald, Jauhar Pramod, Harper Clive, Gurling Hugh M D

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PMID: 16015585
DOI: 10.1002/ajmg.b.30194

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Direct genomic PCR sequencing of the high affinity thiamine transporter (SLC19A2) gene identifies three genetic variants in Wernicke Korsakoff syndrome (WKS).PMID 16015585Read ↗

SLC19A1 Genetic Variation Leads to Altered Thiamine Diphosphate Transport: Implications for the Risk of Developing Wernicke-Korsakoff's Syndrome.Semantic proximity Read ↗

Whole-Exome Sequencing Revealed a Pathogenic Nonsense Variant in the SLC19A2 Gene in an Iranian Family with Thiamine-Responsive Megaloblastic Anemia.Semantic proximity Read ↗

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Clinical and genetic studies of thiamine metabolism dysfunction syndrome-4: case series and review of the literature.Semantic proximity Read ↗

The spectrum of mutations, including four novel ones, in the thiamine-responsive megaloblastic anemia gene SLC19A2 of eight families.Semantic proximity Read ↗

Mutations in a thiamine-transporter gene and Wernicke's-like encephalopathy.Semantic proximity Read ↗

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Compound heterozygous SLC19A3 mutations further refine the critical promoter region for biotin-thiamine-responsive basal ganglia disease.Semantic proximity Read ↗

Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome.Semantic proximity Read ↗

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Genome-wide association analysis identifies a mutation in the thiamine transporter 2 (SLC19A3) gene associated with Alaskan Husky encephalopathy.Semantic proximity Read ↗

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