Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome. (Record no. 18889958)
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|---|---|
| fixed length control field | 02216 a2200685 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515172344.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200907s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1537-6605 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.ajhg.2009.04.017 |
| 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 | Armistead, Joy |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20090702 |
| 245 00 - TITLE STATEMENT | |
| Title | Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of human genetics |
| Date of publication, distribution, etc. | Jun 2009 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 728-39 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Comparative Study; 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 | Case-Control Studies |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cell Line |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chromosomes, Human, Pair 12 |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cricetinae |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA-Directed RNA Polymerases |
| General subdivision | genetics |
| 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 | Fetal Growth Retardation |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Fibroblasts |
| General subdivision | cytology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genes, Recessive |
| 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 | Immunoblotting |
| 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 | Models, Molecular |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Molecular Sequence Data |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Organelle Biogenesis |
| 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 | Protein Conformation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Psychomotor Disorders |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | RNA, Messenger |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Ribosomes |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sequence Homology, Amino Acid |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Syndrome |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Two-Hybrid System Techniques |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Khatkar, Sunita |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Meyer, Britta |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mark, Brian L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Patel, Nehal |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Coghlan, Gail |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lamont, Ryan E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Liu, Shuangbo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wiechert, Jill |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cattini, Peter A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Koetter, Peter |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wrogemann, Klaus |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Greenberg, Cheryl R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Entian, Karl-Dieter |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zelinski, Teresa |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Triggs-Raine, Barbara |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of human genetics |
| Related parts | vol. 84 |
| -- | no. 6 |
| -- | p. 728-39 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ajhg.2009.04.017">https://doi.org/10.1016/j.ajhg.2009.04.017</a> |
| Public note | Available from publisher's website |
No items available.