(Q39033833)

8 September 2017

title

A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diabetes and deafness syndrome (English)

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8 September 2017

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6

Steinkamp MP

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8 September 2017

Gritli S

1

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8 September 2017

Omar S

2

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8 September 2017

Tartaglini E

3

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8 September 2017

Guannouni S

4

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8 September 2017

Fleming JC

5

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8 September 2017

Berul CI

7

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8 September 2017

Hafsia R

8

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8 September 2017

Jilani SB

9

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8 September 2017

Belhani A

10

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8 September 2017

Hamdi M

11

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8 September 2017

Neufeld EJ

12

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8 September 2017

language of work or name

English

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publication date

1 May 2001

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British Journal of Haematology

8 September 2017

published in

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8 September 2017

volume

113

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8 September 2017

issue

2

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8 September 2017

page(s)

508-513

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Diabetes mellitus, thiamine-dependent megaloblastic anemia, and sensorineural deafness associated with deficient alpha-ketoglutarate dehydrogenase activity

8 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2001.02774.X

Thiamine-responsive myelodysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2001.02774.X

Thiamine in excitable tissues: reflections on a non-cofactor role

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2001.02774.X

Thiamine-responsive anemia in DIDMOAD syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2001.02774.X

A second-generation screen of the human genome for susceptibility to insulin-dependent diabetes mellitus

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2001.02774.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2001.02774.X

Cloning of the human thiamine transporter, a member of the folate transporter family

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2001.02774.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2001.02774.X

An autosomal genomic scan for loci linked to type II diabetes mellitus and body-mass index in Pima Indians

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2001.02774.X

Thiamine responsive anaemia: a study of two further cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2001.02774.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2001.02774.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2001.02774.X

A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2001.02774.X

Congenital heart disease caused by mutations in the transcription factor NKX2-5

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2001.02774.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2001.02774.X

Long-term follow-up of diabetes in two patients with thiamine-responsive megaloblastic anemia syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2001.02774.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2001.02774.X

Acute ischemic stroke in a young woman with the thiamine-responsive megaloblastic anemia syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2001.02774.X

10.1046/J.1365-2141.2001.02774.X

21 January 2018

Identifiers

DOI

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8 September 2017

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