(Q73939639)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10874303%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

title

The spectrum of mutations, including four novel ones, in the thiamine-responsive megaloblastic anemia gene SLC19A2 of eight families (English)

1 reference

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8 November 2019

1 reference

6

1 reference

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8 November 2019

author name string

Raz T

1

1 reference

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8 November 2019

Labay V

2

1 reference

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8 November 2019

Baron D

3

1 reference

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8 November 2019

Szargel R

4

1 reference

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8 November 2019

Anbinder Y

5

1 reference

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8 November 2019

Rabl W

7

1 reference

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8 November 2019

Viana MB

8

1 reference

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8 November 2019

Mandel H

9

1 reference

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8 November 2019

Baruchel A

10

1 reference

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8 November 2019

Cayuela JM

11

1 reference

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8 November 2019

Cohen N

12

1 reference

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8 November 2019

publication date

1 January 2000

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8 November 2019

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8 November 2019

volume

16

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8 November 2019

issue

1

1 reference

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8 November 2019

page(s)

37-42

1 reference

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Muscle biochemistry in thiamin-responsive anaemia

8 November 2019

cites work

1 reference

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Thiamine-responsive myelodysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200007%2916%3A1%3C37%3A%3AAID-HUMU7%3E3.0.CO%3B2-9

Thiamine-responsive anemia in DIDMOAD syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200007%2916%3A1%3C37%3A%3AAID-HUMU7%3E3.0.CO%3B2-9

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/10.1002%2F1098-1004%28200007%2916%3A1%3C37%3A%3AAID-HUMU7%3E3.0.CO%3B2-9

A comprehensive genetic map of the human genome based on 5,264 microsatellites

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200007%2916%3A1%3C37%3A%3AAID-HUMU7%3E3.0.CO%3B2-9

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/10.1002%2F1098-1004%28200007%2916%3A1%3C37%3A%3AAID-HUMU7%3E3.0.CO%3B2-9

Genotyping Procedures in Linkage Mapping

21 January 2018

1 reference

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Thiamine responsive anaemia: a study of two further cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200007%2916%3A1%3C37%3A%3AAID-HUMU7%3E3.0.CO%3B2-9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200007%2916%3A1%3C37%3A%3AAID-HUMU7%3E3.0.CO%3B2-9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200007%2916%3A1%3C37%3A%3AAID-HUMU7%3E3.0.CO%3B2-9

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/10.1002%2F1098-1004%28200007%2916%3A1%3C37%3A%3AAID-HUMU7%3E3.0.CO%3B2-9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200007%2916%3A1%3C37%3A%3AAID-HUMU7%3E3.0.CO%3B2-9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200007%2916%3A1%3C37%3A%3AAID-HUMU7%3E3.0.CO%3B2-9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200007%2916%3A1%3C37%3A%3AAID-HUMU7%3E3.0.CO%3B2-9

The role of G proteins in insulin signalling

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200007%2916%3A1%3C37%3A%3AAID-HUMU7%3E3.0.CO%3B2-9

Thiamine-responsive megaloblastic anemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200007%2916%3A1%3C37%3A%3AAID-HUMU7%3E3.0.CO%3B2-9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200007%2916%3A1%3C37%3A%3AAID-HUMU7%3E3.0.CO%3B2-9

Wolfram syndrome: mitochondrial disorder.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200007%2916%3A1%3C37%3A%3AAID-HUMU7%3E3.0.CO%3B2-9

10.1002/1098-1004(200007)16:1<37::AID-HUMU7>3.0.CO;2-9

21 January 2018

Identifiers

DOI

0 references

1 reference