PMM2 intronic branch-site mutations in CDG-Ia. (Record no. 15994719)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01388 a2200409 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515011804.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200605s 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.2005.10.015 |
| 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 | Vuillaumier-Barrot, Sandrine |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20060530 |
| 245 00 - TITLE STATEMENT | |
| Title | PMM2 intronic branch-site mutations in CDG-Ia. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Molecular genetics and metabolism |
| Date of publication, distribution, etc. | Apr 2006 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 337-40 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Base Sequence |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Congenital Disorders of Glycosylation |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Consensus Sequence |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Glycosylation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Heterozygote |
| 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 | Male |
| 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 (Phosphomutases) |
| General subdivision | deficiency |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | RNA Splicing |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Le Bizec, Christiane |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | De Lonlay, Pascale |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Madinier-Chappat, Nathalie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Barnier, Anne |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dupré, Thierry |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Durand, Geneviève |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Seta, Nathalie |
| 773 0# - HOST ITEM ENTRY | |
| Title | Molecular genetics and metabolism |
| Related parts | vol. 87 |
| -- | no. 4 |
| -- | p. 337-40 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ymgme.2005.10.015">https://doi.org/10.1016/j.ymgme.2005.10.015</a> |
| Public note | Available from publisher's website |
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