New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome. (Record no. 15546369)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01679 a2200457 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250514225419.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200506s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 0003-9942 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1001/archneur.62.5.745 |
| Source of number or code | doi |
| 040 ## - CATALOGING SOURCE | |
| Original cataloging agency | NLM |
| Language of cataloging | eng |
| Transcribing agency | NLM |
| 100 1# - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Mancuso, Michelangelo |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20050617 |
| 245 00 - TITLE STATEMENT | |
| Title | New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Archives of neurology |
| Date of publication, distribution, etc. | May 2005 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 745-7 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Blotting, Northern |
| General subdivision | methods |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA Mutational Analysis |
| General subdivision | methods |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Female |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Hepatic Encephalopathy |
| General subdivision | etiology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Homozygote |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Humans |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Infant |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Liver |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mitochondrial Diseases |
| General subdivision | complications |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Muscles |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Phosphotransferases (Alcohol Group Acceptor) |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | RNA, Messenger |
| General subdivision | biosynthesis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Reverse Transcriptase Polymerase Chain Reaction |
| General subdivision | methods |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Siblings |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ferraris, Silvio |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pancrudo, Jacklyn |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Feigenbaum, Annette |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Raiman, Julian |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Christodoulou, John |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Thorburn, David R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | DiMauro, Salvatore |
| 773 0# - HOST ITEM ENTRY | |
| Title | Archives of neurology |
| Related parts | vol. 62 |
| -- | no. 5 |
| -- | p. 745-7 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1001/archneur.62.5.745">https://doi.org/10.1001/archneur.62.5.745</a> |
| Public note | Available from publisher's website |
No items available.