Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21.
about
IL-17E, a novel proinflammatory ligand for the IL-17 receptor homolog IL-17Rh1Clinical and molecular phenotype of Aicardi-Goutieres syndromeMutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locusA second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21Ribonuclease H2 in health and disease.Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.Aicardi-Goutieres syndrome.Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome.Immunoinflammatory diseases of the central nervous system - the tale of two cytokines.A Genome-Wide Association Study for Regulators of Micronucleus Formation in Mice.Modeling of TREX1-Dependent Autoimmune Disease using Human Stem Cells Highlights L1 Accumulation as a Source of Neuroinflammation.Aicardi-Goutières syndrome: clinical and neuroradiological findings of 10 new cases.Aicardi-Goutieres syndrome in siblings.Respiratory chain deficiency in a female with Aicardi-Goutières syndrome.Case of Aicardi-Goutières syndrome with long-lasting increase of cerebrospinal interferon-alpha.A novel rearrangement of occludin causes brain calcification and renal dysfunction.Recessive developmental delay, small stature, microcephaly and brain calcifications with locus on chromosome 2.Unusual Association of Aniridia with Aicardi-Goutières Syndrome-Related Congenital Glaucoma in a Tertiary Care Center.
P2860
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P2860
Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21.
description
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2000年の論文
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2000年論文
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name
Aicardi-Goutières syndrome dis ...... ocus (AGS1) on chromosome 3p21
@nl
Aicardi-Goutières syndrome dis ...... cus (AGS1) on chromosome 3p21.
@ast
Aicardi-Goutières syndrome dis ...... cus (AGS1) on chromosome 3p21.
@en
type
label
Aicardi-Goutières syndrome dis ...... ocus (AGS1) on chromosome 3p21
@nl
Aicardi-Goutières syndrome dis ...... cus (AGS1) on chromosome 3p21.
@ast
Aicardi-Goutières syndrome dis ...... cus (AGS1) on chromosome 3p21.
@en
prefLabel
Aicardi-Goutières syndrome dis ...... ocus (AGS1) on chromosome 3p21
@nl
Aicardi-Goutières syndrome dis ...... cus (AGS1) on chromosome 3p21.
@ast
Aicardi-Goutières syndrome dis ...... cus (AGS1) on chromosome 3p21.
@en
P2093
P2860
P356
P1476
Aicardi-Goutières syndrome dis ...... cus (AGS1) on chromosome 3p21.
@en
P2093
Brunner HG
Jackson AP
Jayatunga R
P2860
P304
P356
10.1086/302955
P407
P577
2000-05-25T00:00:00Z