A Mutation in PMP2 Causes Dominant Demyelinating Charcot-Marie-Tooth Neuropathy. (Record no. 25686820)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01936 a2200637 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517075531.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201607s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1553-7404 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1371/journal.pgen.1005829 |
| 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 | Hong, Young Bin |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20160719 |
| 245 00 - TITLE STATEMENT | |
| Title | A Mutation in PMP2 Causes Dominant Demyelinating Charcot-Marie-Tooth Neuropathy. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | PLoS genetics |
| Date of publication, distribution, etc. | Feb 2016 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | e1005829 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 | Charcot-Marie-Tooth Disease |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chromosome Segregation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Computer Simulation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Demyelinating Diseases |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Electrophysiological Phenomena |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Family |
| 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 | Genes, Dominant |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | HEK293 Cells |
| 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 | Leg |
| General subdivision | physiopathology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Magnetic Resonance Imaging |
| 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 | Mice, Transgenic |
| 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 |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Myelin P2 Protein |
| General subdivision | chemistry |
| 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 | Sural Nerve |
| General subdivision | pathology |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Joo, Jaesoon |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hyun, Young Se |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kwak, Geon |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Choi, Yu-Ri |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Yeo, Ha Kyung |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jwa, Dong Hwan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kim, Eun Ja |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mo, Won Min |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nam, Soo Hyun |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kim, Sung Min |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Yoo, Jeong Hyun |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Koo, Heasoo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Park, Hwan Tae |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chung, Ki Wha |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Choi, Byung-Ok |
| 773 0# - HOST ITEM ENTRY | |
| Title | PLoS genetics |
| Related parts | vol. 12 |
| -- | no. 2 |
| -- | p. e1005829 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1371/journal.pgen.1005829">https://doi.org/10.1371/journal.pgen.1005829</a> |
| Public note | Available from publisher's website |
No items available.