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1.
Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome.
Hum Mutat
; 34(8): 1066-70, 2013 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-23592335
2.
Functional Analyses of a Novel Splice Variant in the CHD7 Gene, Found by Next Generation Sequencing, Confirm Its Pathogenicity in a Spanish Patient and Diagnose Him with CHARGE Syndrome.
Front Genet
; 9: 7, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-29434620
3.
Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.
Lancet Neurol
; 12(12): 1159-69, 2013 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-24183309
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