Heterozygous reelin mutations cause autosomal-dominant lateral temporal epilepsy. (Record no. 24954717)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02586 a2200769 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517034431.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201508s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1537-6605 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.ajhg.2015.04.020 |
| 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 | Dazzo, Emanuela |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20150817 |
| 245 00 - TITLE STATEMENT | |
| Title | Heterozygous reelin mutations cause autosomal-dominant lateral temporal epilepsy. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of human genetics |
| Date of publication, distribution, etc. | Jun 2015 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 992-1000 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Animals |
| 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 | Cell Adhesion Molecules, Neuronal |
| General subdivision | blood |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chromosome Mapping |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Epilepsy, Frontal Lobe |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exome |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Extracellular Matrix Proteins |
| General subdivision | blood |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Fluorescent Antibody Technique |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Gene Components |
| 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 | Immunoblotting |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Intercellular Signaling Peptides and Proteins |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Models, Molecular |
| 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, Missense |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Nerve Tissue Proteins |
| General subdivision | blood |
| 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 |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Protein Conformation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Protein Folding |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Proteins |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Rats |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Reelin Protein |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sequence Analysis, DNA |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Serine Endopeptidases |
| General subdivision | blood |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sleep Wake Disorders |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fanciulli, Manuela |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Serioli, Elena |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Minervini, Giovanni |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pulitano, Patrizia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Binelli, Simona |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Di Bonaventura, Carlo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Luisi, Concetta |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pasini, Elena |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Striano, Salvatore |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Striano, Pasquale |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Coppola, Giangennaro |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chiavegato, Angela |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Radovic, Slobodanka |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Spadotto, Alessandro |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Uzzau, Sergio |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | La Neve, Angela |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Giallonardo, Anna Teresa |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mecarelli, Oriano |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tosatto, Silvio C E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ottman, Ruth |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Michelucci, Roberto |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nobile, Carlo |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of human genetics |
| Related parts | vol. 96 |
| -- | no. 6 |
| -- | p. 992-1000 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ajhg.2015.04.020">https://doi.org/10.1016/j.ajhg.2015.04.020</a> |
| Public note | Available from publisher's website |
No items available.