A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21
about
Clinical and molecular phenotype of Aicardi-Goutieres syndromeMutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locusModulation of LINE-1 and Alu/SVA retrotransposition by Aicardi-Goutières syndrome-related SAMHD1.Ribonuclease 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.Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p.Different mutations in three prime repair exonuclease 1 and ribonuclease H2 genes affect clinical features in Aicardi-Goutieres syndrome.Late diagnosis and atypical brain imaging of Aicardi-Goutières syndrome: are we failing to diagnose Aicardi-Goutières syndrome-2?Neurological Manifestations of Primary Immunodeficiency Diseases.Recessive developmental delay, small stature, microcephaly and brain calcifications with locus on chromosome 2.
P2860
Q24655458-B255DFFA-766D-45F0-BB70-FE44442AA61CQ28252435-77FF0B63-4136-4EF3-AABE-7BF6BF990A8EQ34371066-91437530-6621-4357-8F4A-7CA4F99E4F06Q34433093-2F326E02-CB2D-43E2-8BD4-387CD7A65B04Q34548112-6E0CE998-311E-431D-8BBA-D9D47EC6E443Q34917298-B9762D24-B102-4BD1-810D-51CD3D458216Q35070451-B6082263-05B7-4956-8653-405427564CA2Q44975953-C4B39CEB-B3D4-4F9A-9199-B1DE32830AAAQ48171235-5C1069C4-7560-44BC-A3FA-AB019AD44D6BQ50104465-2E40BAC1-3513-40FA-8191-590DC9B936B9Q51942109-877AD530-CBC0-4C3A-85D7-BF6C1DDE0F44
P2860
A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21
description
2005 nî lūn-bûn
@nan
2005 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21
@ast
A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21
@en
A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21
@nl
type
label
A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21
@ast
A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21
@en
A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21
@nl
prefLabel
A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21
@ast
A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21
@en
A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21
@nl
P2093
P2860
P50
P356
P1476
A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21
@en
P2093
H G Brunner
I Desguerre
L J Highet
P2860
P304
P356
10.1136/JMG.2005.031880
P407
P577
2005-05-20T00:00:00Z