Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion. (Record no. 29644722)
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| fixed length control field | 02511 a2200793 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250518035411.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 202003s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1460-2083 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1093/hmg/ddz091 |
| 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 | Dupont, Marie Alice |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20200309 |
| 245 00 - TITLE STATEMENT | |
| Title | Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Human molecular genetics |
| Date of publication, distribution, etc. | 08 2019 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 2720-2737 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 | Amino Acid Sequence |
| 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 | Animals, Genetically Modified |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Carrier Proteins |
| General subdivision | chemistry |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Centrosome |
| General subdivision | metabolism |
| 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 | Cilia |
| General subdivision | metabolism |
| 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 | 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 | Genetic Association Studies |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Predisposition to Disease |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Homozygote |
| 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 | Intracellular Signaling Peptides and Proteins |
| 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 | Microtubules |
| General subdivision | metabolism |
| 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 | 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 | Protein Binding |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Protein Interaction Domains and Motifs |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Trimethoprim, Sulfamethoxazole Drug Combination |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exome Sequencing |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Zebrafish |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Humbert, Camille |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Huber, Céline |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Siour, Quentin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Guerrera, Ida Chiara |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jung, Vincent |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Christensen, Anni |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pouliet, Aurore |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Garfa-Traoré, Meriem |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nitschké, Patrick |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Injeyan, Marie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Millar, Kathryn |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chitayat, David |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Shannon, Patrick |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Girisha, Katta Mohan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Shukla, Anju |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mechler, Charlotte |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lorentzen, Esben |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Benmerah, Alexandre |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cormier-Daire, Valérie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jeanpierre, Cécile |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Saunier, Sophie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Delous, Marion |
| 773 0# - HOST ITEM ENTRY | |
| Title | Human molecular genetics |
| Related parts | vol. 28 |
| -- | no. 16 |
| -- | p. 2720-2737 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1093/hmg/ddz091">https://doi.org/10.1093/hmg/ddz091</a> |
| Public note | Available from publisher's website |
No items available.