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

Jane C. Ravenscroft; Mohnish Suri; Gillian I. Rice; Marcin Szynkiewicz; Yanick J. Crow

doi:10.1002/ajmg.a.33778

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

Jane C. Ravenscroft, Mohnish Suri, Gillian I. Rice, Marcin Szynkiewicz, Yanick J. Crow

Research output: Contribution to journal › Article › peer-review

Original language	English
Pages (from-to)	235-237
Number of pages	2
Journal	American Journal of Medical Genetics, Part A
Volume	155
Issue number	1
DOIs	https://doi.org/10.1002/ajmg.a.33778
Publication status	Published - Jan 2011

Keywords

Aicardi-Goutières syndrome
Familial chilblain lupus
SAMHD1
Systemic lupus erythematosus
TREX1

Access to Document

10.1002/ajmg.a.33778

Cite this

@article{1b4b6ed51f314ba0b39e87a225fcd72b,

title = "Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus",

keywords = "Aicardi-Gouti{\`e}res syndrome, Familial chilblain lupus, SAMHD1, Systemic lupus erythematosus, TREX1",

author = "Ravenscroft, \{Jane C.\} and Mohnish Suri and Rice, \{Gillian I.\} and Marcin Szynkiewicz and Crow, \{Yanick J.\}",

year = "2011",

month = jan,

doi = "10.1002/ajmg.a.33778",

language = "English",

volume = "155",

pages = "235--237",

journal = "American Journal of Medical Genetics, Part A",

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AU - Ravenscroft, Jane C.

AU - Suri, Mohnish

AU - Rice, Gillian I.

AU - Szynkiewicz, Marcin

AU - Crow, Yanick J.

PY - 2011/1

Y1 - 2011/1

KW - Aicardi-Goutières syndrome

KW - Familial chilblain lupus

KW - SAMHD1

KW - Systemic lupus erythematosus

KW - TREX1

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DO - 10.1002/ajmg.a.33778

M3 - Article

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SN - 1552-4825

VL - 155

SP - 235

EP - 237

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

IS - 1

ER -