Germline and mosaic mutations of FLN1 in men with periventricular heterotopia. (Record no. 14952657)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02197 a2200709 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250514193625.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200412s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1526-632X |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1212/01.wnl.0000132818.84827.4d |
| 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 | Guerrini, R |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20041221 |
| 245 00 - TITLE STATEMENT | |
| Title | Germline and mosaic mutations of FLN1 in men with periventricular heterotopia. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Neurology |
| Date of publication, distribution, etc. | Jul 2004 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 51-6 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Abnormalities, Multiple |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Brain Diseases |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cell Movement |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cerebral Ventricles |
| General subdivision | abnormalities |
| 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 | Choristoma |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chromosomes, Human, X |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cisterna Magna |
| General subdivision | abnormalities |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Contractile Proteins |
| General subdivision | deficiency |
| 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 | Dosage Compensation, Genetic |
| 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 | Filamins |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genes, Lethal |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Diseases, X-Linked |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Germ-Line Mutation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Hair Follicle |
| General subdivision | chemistry |
| 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 | Infant, Newborn |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Introns |
| General subdivision | genetics |
| 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 | Microfilament Proteins |
| General subdivision | deficiency |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Middle Aged |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mosaicism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation, Missense |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Neurons |
| General subdivision | pathology |
| 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 | Phenotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Point Mutation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | RNA Splice Sites |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sequence Deletion |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mei, D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sisodiya, S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sicca, F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Harding, B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Takahashi, Y |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dorn, T |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Yoshida, A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Campistol, J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Krämer, G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Moro, F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dobyns, W B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Parrini, E |
| 773 0# - HOST ITEM ENTRY | |
| Title | Neurology |
| Related parts | vol. 63 |
| -- | no. 1 |
| -- | p. 51-6 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1212/01.wnl.0000132818.84827.4d">https://doi.org/10.1212/01.wnl.0000132818.84827.4d</a> |
| Public note | Available from publisher's website |
No items available.