Title : Whole Exome Sequencing Identifies a Novel Mutation of TPK1 in a Chinese Family with Recurrent Ataxia.

Pub. Date : 2020 Aug

PMID : 32361878






1 Functional Relationships(s)
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1 TPK deficiency, also known as thiamine metabolism dysfunction syndrome 5, is a rare autosomal recessive disorder of inborn error of metabolism caused by TPK1 gene mutation. Thiamine thiamin pyrophosphokinase 1 Homo sapiens