Acute Infantile Liver Failure Due to Mutations in the TRMU Gene-Reference-Cited by-同舟云学术

Acute Infantile Liver Failure Due to Mutations in the TRMU Gene

Published:2009-09 Issue:3 Volume:85 Page:401-407
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Zeharia Avraham,Shaag Avraham,Pappo Orit,Mager-Heckel Anne-Marie,Saada Ann,Beinat Marine,Karicheva Olga,Mandel Hanna,Ofek Noa,Segel Reeval,Marom Daphna,Rötig Agnes,Tarassov Ivan,Elpeleg Orly

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference16 articles.

1. The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA;Mandel;Nat. Genet.,2001

2. POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion;Naviaux;Ann. Neurol.,2004

3. MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion;Spinazzola;Nat. Genet.,2006

4. mtDNA depletion myopathy: elucidation of the tissue specificity in the mitochondrial thymidine kinase (TK2) deficiency;Saada;Mol. Genet. Metab.,2003

5. Defective mitochondrial translation due to a ribosomal protein (MRPS16) mutation;Miller;Ann. Neurol.,2004

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