Recurrent KIF2A mutations are responsible for classic lissencephaly. (Record no. 26521179)
[ view plain ]
| 000 -LEADER | |
|---|---|
| fixed length control field | 01625 a2200505 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517121646.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201802s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1364-6753 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1007/s10048-016-0499-8 |
| 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 | Cavallin, Mara |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20180221 |
| 245 00 - TITLE STATEMENT | |
| Title | Recurrent KIF2A mutations are responsible for classic lissencephaly. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Neurogenetics |
| Date of publication, distribution, etc. | Apr 2017 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 73-79 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 | Adolescent |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Classical Lissencephalies and Subcortical Band Heterotopias |
| General subdivision | genetics |
| 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 | Infant |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Kinesins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Lissencephaly |
| 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 | Mutation, Missense |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Polymorphism, Single Nucleotide |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bijlsma, Emilia K |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | El Morjani, Adrienne |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Moutton, Sébastien |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Peeters, Els A J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Maillard, Camille |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pedespan, Jean Michel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Guerrot, Anne-Marie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Drouin-Garaud, Valérie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Coubes, Christine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Genevieve, David |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bole-Feysot, Christine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fourrage, Cecile |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Steffann, Julie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bahi-Buisson, Nadia |
| 773 0# - HOST ITEM ENTRY | |
| Title | Neurogenetics |
| Related parts | vol. 18 |
| -- | no. 2 |
| -- | p. 73-79 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1007/s10048-016-0499-8">https://doi.org/10.1007/s10048-016-0499-8</a> |
| Public note | Available from publisher's website |
No items available.