CLN6 p.I154del mutation causing late infantile neuronal ceroid lipofuscinosis in a large consanguineous Moroccan family. (Record no. 22290569)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01263 a2200361 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516122716.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201403s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 0973-7693 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1007/s12098-012-0889-3 |
| 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 | Bouhouche, Ahmed |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20140318 |
| 245 00 - TITLE STATEMENT | |
| Title | CLN6 p.I154del mutation causing late infantile neuronal ceroid lipofuscinosis in a large consanguineous Moroccan family. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Indian journal of pediatrics |
| Date of publication, distribution, etc. | Aug 2013 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 694-6 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 | Consanguinity |
| 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 | Morocco |
| 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 | Regragui, Wafae |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | El Fahime, Elmostafa |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bouslam, Naima |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tazi-Ahnini, Rachid |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Melloul, Marouane |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Benomar, Ali |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Yahyaoui, Mohamed |
| 773 0# - HOST ITEM ENTRY | |
| Title | Indian journal of pediatrics |
| Related parts | vol. 80 |
| -- | no. 8 |
| -- | p. 694-6 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1007/s12098-012-0889-3">https://doi.org/10.1007/s12098-012-0889-3</a> |
| Public note | Available from publisher's website |
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