(Q40944535)

English

The gene mutated in thiamine-responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter

scientific article published on July 1999

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scholarly article

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Europe PubMed Central

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25 September 2017

The gene mutated in thiamine-responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter (English)

1 reference

Europe PubMed Central

PubMed publication ID

25 September 2017

1 reference

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Mara P. Steinkamp

3

object named as

Steinkamp MP

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Europe PubMed Central

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25 September 2017

author name string

Fleming JC

1

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Europe PubMed Central

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25 September 2017

Tartaglini E

2

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Europe PubMed Central

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25 September 2017

Schorderet DF

4

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Europe PubMed Central

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25 September 2017

Cohen N

5

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25 September 2017

Neufeld EJ

6

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25 September 2017

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publication date

1 July 1999

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25 September 2017

Nature Genetics

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25 September 2017

22

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25 September 2017

3

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25 September 2017

305-308

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25 September 2017

Thiamine-responsive megaloblastic anemia

1 reference

https://api.crossref.org/works/10.1038%2F10379

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2F10379

7 January 2021

based on heuristic

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

1 reference

https://api.crossref.org/works/10.1038%2F10379

7 January 2021

based on heuristic

inferred from DOI database lookup

Refined mapping of the gene for thiamine-responsive megaloblastic anemia syndrome and evidence for genetic homogeneity

1 reference

https://api.crossref.org/works/10.1038%2F10379

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2F10379

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness

1 reference

https://api.crossref.org/works/10.1038%2F10379

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2F10379

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2F10379

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification and characterization of the thiamine transporter gene of Saccharomyces cerevisiae

1 reference

https://api.crossref.org/works/10.1038%2F10379

7 January 2021

based on heuristic

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Gapped BLAST and PSI-BLAST: a new generation of protein database search programs

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https://api.crossref.org/works/10.1038%2F10379

7 January 2021

based on heuristic

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Molecular cloning of the human placental folate transporter

1 reference

https://api.crossref.org/works/10.1038%2F10379

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2F10379

7 January 2021

based on heuristic

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Transmembrane helices predicted at 95% accuracy

1 reference

https://api.crossref.org/works/10.1038%2F10379

7 January 2021

based on heuristic

inferred from DOI database lookup

Nramp2 is mutated in the anemic Belgrade (b) rat: evidence of a role for Nramp2 in endosomal iron transport.

1 reference

https://api.crossref.org/works/10.1038%2F10379

7 January 2021

based on heuristic

inferred from DOI database lookup

The PROSITE database, its status in 1997.

1 reference

https://api.crossref.org/works/10.1038%2F10379

7 January 2021

based on heuristic

inferred from DOI database lookup

Structure of pre-pro-von Willebrand factor and its expression in heterologous cells

1 reference

https://api.crossref.org/works/10.1038%2F10379

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

1 reference

Europe PubMed Central

PubMed publication ID

25 September 2017

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PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

25 September 2017

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