Pathogenicity of POFUT1 mutations in two Chinese families with Dowling-Degos disease. (Record no. 25373048)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01296 a2200397 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517060525.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201704s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1468-3083 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1111/jdv.13323 |
| 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 | Li, C-R |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20170421 |
| 245 00 - TITLE STATEMENT | |
| Title | Pathogenicity of POFUT1 mutations in two Chinese families with Dowling-Degos disease. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Journal of the European Academy of Dermatology and Venereology : JEADV |
| Date of publication, distribution, etc. | Oct 2016 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | e79-e81 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Letter |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Adult |
| 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 | Female |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Fucosyltransferases |
| General subdivision | genetics |
| 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 | Hyperpigmentation |
| General subdivision | genetics |
| 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 | Skin Diseases, Genetic |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Skin Diseases, Papulosquamous |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Brooks, Y S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jia, W-X |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wang, D-G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Xiao, X-M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Li, Q |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Li, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mao, Q-X |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wang, B |
| 773 0# - HOST ITEM ENTRY | |
| Title | Journal of the European Academy of Dermatology and Venereology : JEADV |
| Related parts | vol. 30 |
| -- | no. 10 |
| -- | p. e79-e81 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1111/jdv.13323">https://doi.org/10.1111/jdv.13323</a> |
| Public note | Available from publisher's website |
No items available.