(Q55670487)

English

Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus

No description defined

In more languages

edit

Statements

instance of

scholarly article

0 references

title

Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus (English)

0 references

1 reference

1 reference

1 reference

Gillian I Rice

3

0 references

Yanick J. Crow

object named as

Yanick J Crow

series ordinal

5

0 references

author name string

Jane C Ravenscroft

series ordinal

1

0 references

Mohnish Suri

series ordinal

2

0 references

Marcin Szynkiewicz

series ordinal

4

0 references

language of work or name

English

0 references

publication date

January 2011

0 references

published in

American Journal of Medical Genetics

0 references

volume

155A

0 references

issue

1

0 references

page(s)

235-7

0 references

cites work

Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FAJMG.A.33778

retrieved

21 January 2018

Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FAJMG.A.33778

retrieved

21 January 2018

A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FAJMG.A.33778

retrieved

21 January 2018

Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus.

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FAJMG.A.33778

retrieved

21 January 2018

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

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FAJMG.A.33778

retrieved

21 January 2018

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FAJMG.A.33778

retrieved

21 January 2018

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FAJMG.A.33778

retrieved

21 January 2018

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

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FAJMG.A.33778

retrieved

21 January 2018

A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FAJMG.A.33778

retrieved

21 January 2018

Intracerebral large artery disease in Aicardi-Goutières syndrome implicates SAMHD1 in vascular homeostasis

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FAJMG.A.33778

retrieved

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.33778

0 references

Fatcat ID

release_howlpvc5lzee5mbdupz2me6koe

1 reference

stated in

Fatcat

reference URL

https://api.fatcat.wiki/v0/release/howlpvc5lzee5mbdupz2me6koe

retrieved

24 November 2022

based on heuristic

mapped directly with Wikidata item

PubMed publication ID

21204240

0 references

(Q55670487)

Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus

Statements

Identifiers

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)