Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis III. (Record no. 14776064)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01626 a2200517 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250514183641.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200405s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1468-6244 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1136/jmg.2003.015222 |
| 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 | Raas-Rothschild, A |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20040507 |
| 245 00 - TITLE STATEMENT | |
| Title | Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis III. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Journal of medical genetics |
| Date of publication, distribution, etc. | Apr 2004 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | e52 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 | Adolescent |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Adult |
| 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 Mutational Analysis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exons |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genome, Human |
| 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 | Introns |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mucolipidoses |
| General subdivision | diagnosis |
| 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 | Protein Subunits |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Transferases (Other Substituted Phosphate Groups) |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bargal, R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Goldman, O |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ben-Asher, E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Groener, J E M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Toutain, A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stemmer, E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ben-Neriah, Z |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Flusser, H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Beemer, F A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Penttinen, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Olender, T |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rein, A J J T |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bach, G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zeigler, M |
| 773 0# - HOST ITEM ENTRY | |
| Title | Journal of medical genetics |
| Related parts | vol. 41 |
| -- | no. 4 |
| -- | p. e52 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1136/jmg.2003.015222">https://doi.org/10.1136/jmg.2003.015222</a> |
| Public note | Available from publisher's website |
No items available.