A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis. (Record no. 18314979)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01532 a2200529 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515141106.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200907s 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/s10048-008-0153-1 |
| 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 | Stogmann, E |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20090713 |
| 245 00 - TITLE STATEMENT | |
| Title | A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Neurogenetics |
| Date of publication, distribution, etc. | Feb 2009 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 73-7 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article |
| 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 | Base Sequence |
| 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 | Egypt |
| 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 | Genetic Linkage |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genotype |
| 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 | Male |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Membrane Transport Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Molecular Sequence Data |
| 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 | Neuronal Ceroid-Lipofuscinoses |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pedigree |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | El Tawil, S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wagenstaller, J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gaber, A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Edris, S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Abdelhady, A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Assem-Hilger, E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Leutmezer, F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bonelli, S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Baumgartner, C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zimprich, F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Strom, T M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zimprich, A |
| 773 0# - HOST ITEM ENTRY | |
| Title | Neurogenetics |
| Related parts | vol. 10 |
| -- | no. 1 |
| -- | p. 73-7 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1007/s10048-008-0153-1">https://doi.org/10.1007/s10048-008-0153-1</a> |
| Public note | Available from publisher's website |
No items available.