A nonsense mutation in the DNA repair factor Hebo causes mild bone marrow failure and microcephaly. (Record no. 26025905)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01872 a2200565 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517094650.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201707s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1540-9538 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1084/jem.20151183 |
| 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 | Zhang, Shu |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20170721 |
| 245 00 - TITLE STATEMENT | |
| Title | A nonsense mutation in the DNA repair factor Hebo causes mild bone marrow failure and microcephaly. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | The Journal of experimental medicine |
| Date of publication, distribution, etc. | 05 2016 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1011-28 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 | Adolescent |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Bone Marrow Diseases |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cell Cycle Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cell Nucleus |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cells, Cultured |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Codon, Nonsense |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA Breaks, Double-Stranded |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA Helicases |
| General subdivision | biosynthesis |
| 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 Expression Regulation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Linkage |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | High-Throughput Nucleotide Sequencing |
| 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 | Male |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Microcephaly |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Nuclear Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Protein Domains |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pondarre, Corinne |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pennarun, Gaelle |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Labussiere-Wallet, Helene |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vera, Gabriella |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | France, Benoit |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chansel, Marie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rouvet, Isabelle |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Revy, Patrick |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lopez, Bernard |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Soulier, Jean |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bertrand, Pascale |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Callebaut, Isabelle |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | de Villartay, Jean-Pierre |
| 773 0# - HOST ITEM ENTRY | |
| Title | The Journal of experimental medicine |
| Related parts | vol. 213 |
| -- | no. 6 |
| -- | p. 1011-28 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1084/jem.20151183">https://doi.org/10.1084/jem.20151183</a> |
| Public note | Available from publisher's website |
No items available.