(Q52973462)

10 May 2018

title

The importance of chilblains as a diagnostic clue for mild Aicardi-Goutières syndrome. (English)

1 reference

10 May 2018

1 reference

Kevin Yarbrough

1

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10 May 2018

Calida Danko

2

1 reference

10 May 2018

Alfons Krol

3

1 reference

10 May 2018

Jonathan Zonana

4

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10 May 2018

Sabra Leitenberger

5

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10 May 2018

language of work or name

English

0 references

publication date

8 September 2016

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10 May 2018

American Journal of Medical Genetics

published in

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10 May 2018

volume

170

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10 May 2018

issue

12

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10 May 2018

page(s)

3308-3312

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10 May 2018

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37944

HIV-1 restriction factor SAMHD1 is a deoxynucleoside triphosphate triphosphohydrolase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37944

Systemic involvement in TREX1-associated familial chilblain lupus

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37944

Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37944

Homozygous mutation in SAMHD1 gene causes cerebral vasculopathy and early onset stroke

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37944

Familial Aicardi-Goutières syndrome due toSAMHD1mutations is associated with chronic arthropathy and contractures

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37944

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.37944

1 reference

10 May 2018

1 reference

10 May 2018