Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation. (Record no. 26618218)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02060 a2200601 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517124614.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201801s 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.23146 |
| 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 | Nilsson, Daniel |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20180112 |
| 245 00 - TITLE STATEMENT | |
| Title | Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Human mutation |
| Date of publication, distribution, etc. | 02 2017 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 180-192 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural |
| 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 | Chromosome Breakage |
| 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 | Comparative Genomic Hybridization |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA Copy Number Variations |
| 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 | Genomics |
| General subdivision | methods |
| 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 | Homologous Recombination |
| 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 | In Situ Hybridization, Fluorescence |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Karyotype |
| 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 | Phenotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Translocation, Genetic |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Whole Genome Sequencing |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pettersson, Maria |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gustavsson, Peter |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Förster, Alisa |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hofmeister, Wolfgang |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wincent, Josephine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zachariadis, Vasilios |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Anderlid, Britt-Marie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nordgren, Ann |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mäkitie, Outi |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wirta, Valtteri |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Käller, Max |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vezzi, Francesco |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lupski, James R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nordenskjöld, Magnus |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lundberg, Elisabeth Syk |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Carvalho, Claudia M B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lindstrand, Anna |
| 773 0# - HOST ITEM ENTRY | |
| Title | Human mutation |
| Related parts | vol. 38 |
| -- | no. 2 |
| -- | p. 180-192 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/humu.23146">https://doi.org/10.1002/humu.23146</a> |
| Public note | Available from publisher's website |
No items available.