Pearson syndrome and the role of deletion dimers and duplications in the mtDNA. (Record no. 14692883)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01548 a2200493 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250514180743.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200410s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 0141-8955 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1023/B:BOLI.0000016601.49372.18 |
| 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 | Jacobs, L J A M |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20041012 |
| 245 00 - TITLE STATEMENT | |
| Title | Pearson syndrome and the role of deletion dimers and duplications in the mtDNA. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Journal of inherited metabolic disease |
| Date of publication, distribution, etc. | 2004 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 47-55 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Anemia |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Bone Marrow Diseases |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Child |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Child, Preschool |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA, Mitochondrial |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Dimerization |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Fatal Outcome |
| 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 | Fibrosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Gene Deletion |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Gene Duplication |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Gene Rearrangement |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genotype |
| 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 | Pancreatic Diseases |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Phenotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Syndrome |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jongbloed, R J E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wijburg, F A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | de Klerk, J B C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Geraedts, J P M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nijland, J G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Scholte, H R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | de Coo, I F M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Smeets, H J M |
| 773 0# - HOST ITEM ENTRY | |
| Title | Journal of inherited metabolic disease |
| Related parts | vol. 27 |
| -- | no. 1 |
| -- | p. 47-55 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1023/B:BOLI.0000016601.49372.18">https://doi.org/10.1023/B:BOLI.0000016601.49372.18</a> |
| Public note | Available from publisher's website |
No items available.