Novel mutation in the NHLRC1 gene in a Malian family with a severe phenotype of Lafora disease. (Record no. 18759559)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01613 a2200529 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515163943.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200912s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1364-6753 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1007/s10048-009-0190-4 |
| 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 | Traoré, M |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20091207 |
| 245 00 - TITLE STATEMENT | |
| Title | Novel mutation in the NHLRC1 gene in a Malian family with a severe phenotype of Lafora disease. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Neurogenetics |
| Date of publication, distribution, etc. | Oct 2009 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 319-23 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Research Support, N.I.H., Intramural; 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 | Brain |
| General subdivision | pathology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Carrier Proteins |
| 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 | Consanguinity |
| 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 | Female |
| 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 | Lafora Disease |
| General subdivision | genetics |
| 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 | Mali |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation, Missense |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pedigree |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Polymorphism, Single Nucleotide |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Ubiquitin-Protein Ligases |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Young Adult |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Landouré, G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Motley, W |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sangaré, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Meilleur, K |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Coulibaly, S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Traoré, S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Niaré, B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mochel, F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | La Pean, A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vortmeyer, A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mani, H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fischbeck, K H |
| 773 0# - HOST ITEM ENTRY | |
| Title | Neurogenetics |
| Related parts | vol. 10 |
| -- | no. 4 |
| -- | p. 319-23 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1007/s10048-009-0190-4">https://doi.org/10.1007/s10048-009-0190-4</a> |
| Public note | Available from publisher's website |
No items available.