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Alpers-Huttenlocher Syndrome

✍ Scribed by Saneto, Russell P.; Cohen, Bruce H.; Copeland, William C.; Naviaux, Robert K.


Book ID
121012433
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
707 KB
Volume
48
Category
Article
ISSN
0887-8994

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POLG mutations and Alpers syndrome
✍ Guido Davidzon; Michelangelo Mancuso; Silvio Ferraris; Catarina Quinzii; Michio 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 60 KB

## Abstract Alpers–Huttenlocher syndrome (AHS) an autosomal recessive hepatocerebral syndrome of early onset, has been associated with mitochondrial DNA (mtDNA) depletion and mutations in polymerase gamma gene (__POLG__). We have identified __POLG__ mutations in four patients with hepatocerebral sy