A novel mutation in the CLN1 gene in a patient with juvenile neuronal ceroid lipofuscinosis. (Record no. 12191544)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01535 a2200457 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250514050228.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200303s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 0340-5354 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1007/s00415-002-0849-3 |
| 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 | Mazzei, Rosalucia |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20030317 |
| 245 00 - TITLE STATEMENT | |
| Title | A novel mutation in the CLN1 gene in a patient with juvenile neuronal ceroid lipofuscinosis. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Journal of neurology |
| Date of publication, distribution, etc. | Oct 2002 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1398-400 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 Substitution |
| 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 | Cytoplasmic Granules |
| General subdivision | pathology |
| 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 | Membrane Proteins |
| General subdivision | genetics |
| 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 | Polymerase Chain Reaction |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Skin |
| General subdivision | pathology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Thiolester Hydrolases |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Conforti, Francesca L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Magariello, Angela |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bravaccio, Carmela |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Militerni, Roberto |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gabriele, Anna L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sampaolo, Simone |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Patitucci, Alessandra |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Di Iorio, Giuseppe |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Muglia, Maria |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Quattrone, Aldo |
| 773 0# - HOST ITEM ENTRY | |
| Title | Journal of neurology |
| Related parts | vol. 249 |
| -- | no. 10 |
| -- | p. 1398-400 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1007/s00415-002-0849-3">https://doi.org/10.1007/s00415-002-0849-3</a> |
| Public note | Available from publisher's website |
No items available.