A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome-Reference-Cited by-同舟云学术

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

Published:2010-08-26 Issue:10 Volume:152A Page:2612-2617
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Haaxma Charlotte A.,Crow Yanick J.,van Steensel Maurice A.M.,Lammens Martin M.Y.,Rice Gillian I.,Verbeek Marcel M.,Willemsen Michèl A.A.P.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference9 articles.

1. Respiratory chain deficiency in a female with Aicardi-Goutières syndrome;Barnerias;Dev Med Child Neurol,2006

2. Cerebrospinal fluid pterins and folates in Aicardi-Goutières syndrome: A new phenotype;Blau;Neurology,2003

3. Respiratory chain deficiency in Aicardi-Goutières syndrome;Castro-Gago;Dev Med Child Neurol,2006

4. Aicardi-Goutières syndrome: An important Mendelian mimic of congenital infection;Crow;Dev Med Child Neurol,2008

5. A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus;Lee-Kirsch;J Mol Med,2007a

Cited by 36 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Nucleotide metabolism, leukodystrophies, and CNS pathology;Journal of Inherited Metabolic Disease;2024-02-29

2. Aicardi–Goutières Syndrome with Congenital Glaucoma Caused by Novel TREX1 Mutation;Journal of Personalized Medicine;2023-11-15

3. Structural basis of human TREX1 DNA degradation and autoimmune disease;Nature Communications;2022-07-25

4. TREX1 plays multiple roles in human diseases;Cellular Immunology;2022-05

5. Aicardi‐Goutières syndrome may present with positive newborn screen for X‐linked adrenoleukodystrophy;American Journal of Medical Genetics Part A;2021-03-08

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