Exome sequencing identified a missense mutation of EPS8L3 in Marie Unna hereditary hypotrichosis. (Record no. 22214123)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01890 a2200649 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516120005.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201306s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1468-6244 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1136/jmedgenet-2012-101134 |
| 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, Xin |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20130613 |
| 245 00 - TITLE STATEMENT | |
| Title | Exome sequencing identified a missense mutation of EPS8L3 in Marie Unna hereditary hypotrichosis. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Journal of medical genetics |
| Date of publication, distribution, etc. | Dec 2012 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 727-30 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 | Adaptor Proteins, Signal Transducing |
| 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 | DNA Mutational Analysis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exome |
| 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 | Genotype |
| 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 | Hypotrichosis |
| General subdivision | congenital |
| 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 | Mutation, Missense |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pedigree |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Guo, Bi-Rong |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cai, Li-Qiong |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jiang, Tao |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sun, Liang-Dan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cui, Yong |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hu, Jing-Chu |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zhu, Jun |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chen, Gang |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tang, Xian-Fa |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sun, Guang-Qing |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tang, Hua-Yang |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Liu, Yuan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Li, Min |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Li, Qi-Bin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cheng, Hui |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gao, Min |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Li, Ping |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Yang, Xu |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zuo, Xian-Bo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zheng, Xiao-Dong |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wang, Pei-Guang |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wang, Jian |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wang, Jun |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Liu, Jian-Jun |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Yang, Sen |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Li, Ying-Rui |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zhang, Xue-Jun |
| 773 0# - HOST ITEM ENTRY | |
| Title | Journal of medical genetics |
| Related parts | vol. 49 |
| -- | no. 12 |
| -- | p. 727-30 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1136/jmedgenet-2012-101134">https://doi.org/10.1136/jmedgenet-2012-101134</a> |
| Public note | Available from publisher's website |
No items available.