A nonsense mutation in DHTKD1 causes Charcot-Marie-Tooth disease type 2 in a large Chinese pedigree. (Record no. 22253816)
[ view plain ]
| 000 -LEADER | |
|---|---|
| fixed length control field | 01944 a2200613 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516121336.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201302s 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.2012.09.018 |
| 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 | Xu, Wang-Yang |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20130214 |
| 245 00 - TITLE STATEMENT | |
| Title | A nonsense mutation in DHTKD1 causes Charcot-Marie-Tooth disease type 2 in a large Chinese pedigree. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of human genetics |
| Date of publication, distribution, etc. | Dec 2012 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1088-94 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; 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 | Asian People |
| General subdivision | genetics |
| 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 | Charcot-Marie-Tooth Disease |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | China |
| 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 | Exons |
| 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 Order |
| 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 | Ketoglutarate Dehydrogenase Complex |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Ketone Oxidoreductases |
| General subdivision | genetics |
| 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 | Mitochondria, Muscle |
| General subdivision | genetics |
| 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 | Muscle, Skeletal |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Nonsense Mediated mRNA Decay |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pedigree |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gu, Ming-Min |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sun, Lian-Hua |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Guo, Wen-Ting |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zhu, Hou-Bao |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ma, Jian-Fang |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Yuan, Wen-Tao |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kuang, Ying |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ji, Bao-Jun |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wu, Xiao-Lin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chen, Yan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zhang, Hong-Xin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sun, Fu-Ting |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Huang, Wei |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Huang, Lei |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chen, Sheng-di |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wang, Zhu-Gang |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of human genetics |
| Related parts | vol. 91 |
| -- | no. 6 |
| -- | p. 1088-94 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ajhg.2012.09.018">https://doi.org/10.1016/j.ajhg.2012.09.018</a> |
| Public note | Available from publisher's website |
No items available.