A novel SLC25A20 splicing mutation in patients of different ethnic origin with neonatally lethal carnitine-acylcarnitine translocase (CACT) deficiency. (Record no. 16505995)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01450 a2200409 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515035901.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200701s 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.2006.06.009 |
| 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 | Korman, Stanley H |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20070123 |
| 245 00 - TITLE STATEMENT | |
| Title | A novel SLC25A20 splicing mutation in patients of different ethnic origin with neonatally lethal carnitine-acylcarnitine translocase (CACT) deficiency. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Molecular genetics and metabolism |
| Date of publication, distribution, etc. | Dec 2006 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 332-8 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 | Amino Acid Metabolism, Inborn Errors |
| General subdivision | enzymology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA, Complementary |
| General subdivision | genetics |
| 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 | Genes, Lethal |
| 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, Newborn |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Membrane Transport Proteins |
| General subdivision | analysis |
| 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 | RNA Splicing |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sequence Analysis, DNA |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pitt, James J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Boneh, Avihu |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dweikat, Imad |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zater, Mokhtar |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Meiner, Vardiella |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gutman, Alisa |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Brivet, Michèle |
| 773 0# - HOST ITEM ENTRY | |
| Title | Molecular genetics and metabolism |
| Related parts | vol. 89 |
| -- | no. 4 |
| -- | p. 332-8 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ymgme.2006.06.009">https://doi.org/10.1016/j.ymgme.2006.06.009</a> |
| Public note | Available from publisher's website |
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