(Q30726340)

26 June 2017

Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome (English)

1 reference

26 June 2017

Diaz GA

1

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26 June 2017

Banikazemi M

2

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26 June 2017

Oishi K

3

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26 June 2017

Desnick RJ

4

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26 June 2017

Gelb BD

5

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26 June 2017

language of work or name

English

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publication date

1 July 1999

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26 June 2017

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26 June 2017

22

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26 June 2017

309-312

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26 June 2017

3

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Thiamine-responsive megaloblastic anemia

26 June 2017

1 reference

7 January 2021

Thiamine-responsive megaloblastic anemia, sensorineural deafness, and diabetes mellitus: A new syndrome?

1 reference

7 January 2021

Thiamine-dependent beriberi in the "thiamine-responsive anemia syndrome"

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7 January 2021

Further studies on erythrocyte thiamin transport and phosphorylation in seven patients with thiamin-responsive megaloblastic anaemia

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7 January 2021

Thiamine transport by erythrocytes and ghosts in thiamine-responsive megaloblastic anaemia

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7 January 2021

Defective high-affinity thiamine transporter leads to cell death in thiamine-responsive megaloblastic anemia syndrome fibroblasts

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7 January 2021

Localization of the gene for thiamine-responsive megaloblastic anemia syndrome, on the long arm of chromosome 1, by homozygosity mapping

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7 January 2021

Molecular cloning of the human placental folate transporter

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7 January 2021

Isolation of a human cDNA that complements a mutant hamster cell defective in methotrexate uptake

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7 January 2021

Isolation of human cDNAs that restore methotrexate sensitivity and reduced folate carrier activity in methotrexate transport-defective Chinese hamster ovary cells

1 reference

7 January 2021

Localization of the thiamine-responsive megaloblastic anemia syndrome locus to a 1.4-cM region of 1q23

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7 January 2021

Identification and characterization of the thiamine transporter gene of Saccharomyces cerevisiae

1 reference

7 January 2021

Isolation and characterization of a thiamin transport gene, THI10, from Saccharomyces cerevisiae

1 reference

7 January 2021

Point mutations define a sequence flanking the AUG initiator codon that modulates translation by eukaryotic ribosomes

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7 January 2021

An analysis of 5'-noncoding sequences from 699 vertebrate messenger RNAs

1 reference

7 January 2021

A thiamine/H+ antiport mechanism for thiamine entry into brush border membrane vesicles from rat small intestine

1 reference

7 January 2021

Tandem repeats finder: a program to analyze DNA sequences

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7 January 2021

Principles governing amino acid composition of integral membrane proteins: application to topology prediction

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7 January 2021

Identifiers

DOI

10.1038/10385

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Dimensions Publication ID

26 June 2017

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1 reference