Hepatocerebral Mitochondrial DNA Depletion
Two novel homozygous mutations, G352A and C269T, are documented in the gene for deoxyguanosine kinase (DGK) in 3 children with hepatocerebral mitochondrial DNA depletion syndrome reported from Columbia University College of Physicians and Surgeons, New York; University of Pisa, Italy; University of...
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| Format: | Book |
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Pediatric Neurology Briefs Publishers,
2005-08-01T00:00:00Z.
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|---|---|---|---|
| 001 | doaj_c37c6fba96e841d3a947a8e92786dad5 | ||
| 042 | |a dc | ||
| 100 | 1 | 0 | |a J Gordon Millichap |e author |
| 245 | 0 | 0 | |a Hepatocerebral Mitochondrial DNA Depletion |
| 260 | |b Pediatric Neurology Briefs Publishers, |c 2005-08-01T00:00:00Z. | ||
| 500 | |a 1043-3155 | ||
| 500 | |a 2166-6482 | ||
| 500 | |a 10.15844/pedneurbriefs-19-8-2 | ||
| 520 | |a Two novel homozygous mutations, G352A and C269T, are documented in the gene for deoxyguanosine kinase (DGK) in 3 children with hepatocerebral mitochondrial DNA depletion syndrome reported from Columbia University College of Physicians and Surgeons, New York; University of Pisa, Italy; University of Toronto, Canada; and University of Melbourne, Australia. | ||
| 546 | |a EN | ||
| 690 | |a hepatocerebral mitochondrial dna depletion | ||
| 690 | |a deoxyguanosine kinase | ||
| 690 | |a nystagmus | ||
| 690 | |a Pediatrics | ||
| 690 | |a RJ1-570 | ||
| 690 | |a Neurology. Diseases of the nervous system | ||
| 690 | |a RC346-429 | ||
| 655 | 7 | |a article |2 local | |
| 786 | 0 | |n Pediatric Neurology Briefs, Vol 19, Iss 8, Pp 58-58 (2005) | |
| 787 | 0 | |n https://www.pediatricneurologybriefs.com/articles/1249 | |
| 787 | 0 | |n https://doaj.org/toc/1043-3155 | |
| 787 | 0 | |n https://doaj.org/toc/2166-6482 | |
| 856 | 4 | 1 | |u https://doaj.org/article/c37c6fba96e841d3a947a8e92786dad5 |z Connect to this object online. |