(Q58025298)

13

0 references

Tadej Battelino

object named as

Tadej Battelino

6

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Jan Lebl

object named as

Jan Lebl

12

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author name string

Katarina Trebusak

2

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Maarit Heino

3

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Valentin Fadeyev

4

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Anatoly Tiulpakov

5

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Attila Tar

7

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Zita Halász

8

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Peter Blümel

9

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Sameh Tawfik

10

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Kai Krohn

Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients.

11

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language of work or name

English

0 references

publication date

22 August 2001

0 references

published in

Human Mutation

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volume

18

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issue

3

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page(s)

225-232

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cites work

1 reference

Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein

21 January 2018

1 reference

An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains

21 January 2018

1 reference

Mutation analyses of North American APS-1 patients

21 January 2018

1 reference

Autoimmune regulator is expressed in the cells regulating immune tolerance in thymus medulla.

21 January 2018

1 reference

APECED mutations in the autoimmune regulator (AIRE) gene

21 January 2018

1 reference

Identification by molecular cloning of an autoantigen associated with Addison's disease as steroid 17 alpha-hydroxylase

21 January 2018

1 reference

Positional cloning of the APECED gene

21 January 2018

1 reference

A common and recurrent 13-bp deletion in the autoimmune regulator gene in British kindreds with autoimmune polyendocrinopathy type 1

21 January 2018

1 reference

APECED: a monogenic autoimmune disease providing new clues to self-tolerance

21 January 2018

1 reference

The autoimmune regulator protein has transcriptional transactivating properties and interacts with the common coactivator CREB-binding protein

21 January 2018

1 reference

A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients.

21 January 2018

1 reference

Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins

21 January 2018

1 reference

The nuclear dot protein sp100, characterization of domains necessary for dimerization, subcellular localization, and modification by small ubiquitin-like modifiers

21 January 2018

1 reference

Characterization of mutations in patients with autoimmune polyglandular syndrome type 1 (APS1).

21 January 2018

1 reference

Polyglandular autoimmune syndrome type I among Iranian Jews

21 January 2018

1 reference

Two cytochromes P450 are major hepatocellular autoantigens in autoimmune polyglandular syndrome type 1

21 January 2018

1 reference

inferred from DOI database lookup

7 January 2021

based on heuristic

Two types of autoimmune Addison's disease associated with different polyglandular autoimmune (PGA) syndromes.

1 reference

inferred from DOI database lookup

7 January 2021

based on heuristic

Immunoprecipitation of steroidogenic enzyme autoantigens with autoimmune polyglandular syndrome type I (APS I) sera; further evidence for independent humoral immunity to P450c17 and P450c21

1 reference