POLGI Mutations in Infantile Hepatocerebral Syndromes
Nine patients, 2 sibling pairs and 5 singleton cases, with POLGI mutations associated with infantile fatal encephalopathy and hepatopathy, 8 having typical Alpers' syndrome (Alpers' hepatopathic poliodystrophy) and one a severe floppy infant syndrome with hepatic failure, are reported from...
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Materyal Türü: | Kitap |
Baskı/Yayın Bilgisi: |
Pediatric Neurology Briefs Publishers,
2005-04-01T00:00:00Z.
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Internet
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Yer Numarası: |
A1234.567 |
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Kopya Bilgisi 1 | Kütüphanede |