Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
Atıf İçin Kopyala
Crow Y., Chase D., Lowenstein S., Szynkiewicz M., Forte G., Gornall H., ...Daha Fazla
American journal of medical genetics. Part A, ss.296-312, 2015 (SCI-Expanded)
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Yayın Türü:
Makale / Tam Makale
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Cilt numarası:
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Basım Tarihi:
2015
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Doi Numarası:
10.1002/ajmg.a.36887
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Dergi Adı:
American journal of medical genetics. Part A
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Derginin Tarandığı İndeksler:
Science Citation Index Expanded (SCI-EXPANDED), Scopus
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Sayfa Sayıları:
ss.296-312
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Anahtar Kelimeler:
Aicardi-Goutieres syndrome, bilateral striatal necrosis, spastic paraparesis, type I interferon, interferon signature, AICARDI-GOUTIERES-SYNDROME, SYSTEMIC-LUPUS-ERYTHEMATOSUS, DNA EXONUCLEASE TREX1, CLASSIFICATION-SYSTEM, INTERFERON-ALPHA, BASAL GANGLIA, GENE, ENCEPHALOPATHY, CALCIFICATIONS, VASCULOPATHY
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Kocaeli Üniversitesi Adresli:
Evet