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Identification of four SLC19A2 mutations in four Chinese thiamine responsive megaloblastic anemia patients without diabetes.

Blood cells, molecules & diseases - 1 Apr 2014

Liu Gang, Yang Fan, Han Bing, Liu Junxiu, Nie Guangjun

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Share to Amino Acid Substitution
Share to Anemia, Megaloblastic
Share to Diabetes Mellitus
Share to Hearing Loss, Sensorineural

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Membrane Transport Proteins

Share to Mutation, Missense

Share to Thiamine

Source

Identifiers

PMID: 24355766
DOI: 10.1016/j.bcmd.2013.11.002

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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Identification of four SLC19A2 mutations in four Chinese thiamine responsive megaloblastic anemia patients without diabetes.PMID 24355766Read ↗

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

A Novel Mutation of SLC19A2 in a Chinese Zhuang Ethnic Family with Thiamine-Responsive Megaloblastic Anemia.Semantic proximity Read ↗

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Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in thiamine-responsive megaloblastic anemiaSemantic 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 ↗

Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness.Semantic proximity Read ↗

A novel mutation in the SLC19A2 gene in a Turkish female with thiamine-responsive megaloblastic anemia syndrome.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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Novel nonsense mutation (p.Ile411Metfs*12) in the SLC19A2 gene causing Thiamine Responsive Megaloblastic Anemia in an Indian patient.Semantic proximity Read ↗

First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the thiamine transporter SLC19A2 gene-intron 1 mutation c.204+2T>G.Semantic proximity Read ↗

Thiamine-responsive megaloblastic anemia syndrome: a disorder of high-affinity thiamine transport.Semantic proximity Read ↗

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