Identification of an Alu-mediated tandem duplication of exons 8 and 9 in a patient with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. (Record no. 17249627)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01453 a2200397 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515081114.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200803s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1096-7192 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.ymgme.2007.07.007 |
| 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 | Fukao, Toshiyuki |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20080328 |
| 245 00 - TITLE STATEMENT | |
| Title | Identification of an Alu-mediated tandem duplication of exons 8 and 9 in a patient with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Molecular genetics and metabolism |
| Date of publication, distribution, etc. | Dec 2007 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 375-8 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Acetyl-CoA C-Acetyltransferase |
| General subdivision | deficiency |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Alu Elements |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA Mutational Analysis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exons |
| General subdivision | genetics |
| 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 | Gene Duplication |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genome, Human |
| General subdivision | genetics |
| 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 | Mitochondrial Diseases |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Polymerase Chain Reaction |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Recombination, Genetic |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zhang, Gaixiu |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rolland, Marie-Odile |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zabot, Marie-Therese |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Guffon, Nathalie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Aoki, Yusuke |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kondo, Naomi |
| 773 0# - HOST ITEM ENTRY | |
| Title | Molecular genetics and metabolism |
| Related parts | vol. 92 |
| -- | no. 4 |
| -- | p. 375-8 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ymgme.2007.07.007">https://doi.org/10.1016/j.ymgme.2007.07.007</a> |
| Public note | Available from publisher's website |
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