Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis. (Record no. 18623345)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02027 a2200649 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515155246.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200905s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1098-1004 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1002/humu.20975 |
| 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 | Aiello, Chiara |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20090528 |
| 245 00 - TITLE STATEMENT | |
| Title | Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Human mutation |
| Date of publication, distribution, etc. | Mar 2009 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | E530-40 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 | Adolescent |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Amino Acid 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 | Child, Preschool |
| 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 | Gene Frequency |
| 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 | Italy |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Magnetic Resonance Imaging |
| 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 |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sequence Homology, Amino Acid |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Terracciano, Alessandra |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Simonati, Alessandro |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Discepoli, Giancarlo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cannelli, Natalia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Claps, Dianela |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Crow, Yanick J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bianchi, Marzia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kitzmuller, Claudia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Longo, Daniela |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tavoni, Antonietta |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Franzoni, Emilio |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tessa, Alessandra |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Veneselli, Edwige |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Boldrini, Renata |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Filocamo, Mirella |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Williams, Ruth E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bertini, Enrico S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Biancheri, Roberta |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Carrozzo, Rosalba |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mole, Sara E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Santorelli, Filippo M |
| 773 0# - HOST ITEM ENTRY | |
| Title | Human mutation |
| Related parts | vol. 30 |
| -- | no. 3 |
| -- | p. E530-40 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/humu.20975">https://doi.org/10.1002/humu.20975</a> |
| Public note | Available from publisher's website |
No items available.