Phenotypic variation in epidermolytic ichthyosis: clinical and functional evaluation of the novel p.(Met339Lys) mutation in the L12 domain of KRT1. (Record no. 25026270)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01258 a2200349 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517040806.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201610s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1600-0625 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1111/exd.12786 |
| 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 | Nellen, Ruud G L |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20161027 |
| 245 00 - TITLE STATEMENT | |
| Title | Phenotypic variation in epidermolytic ichthyosis: clinical and functional evaluation of the novel p.(Met339Lys) mutation in the L12 domain of KRT1. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Experimental dermatology |
| Date of publication, distribution, etc. | Nov 2015 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 883-5 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Child, Preschool |
| 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 | Hyperkeratosis, Epidermolytic |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Keratin-1 |
| 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 | Phenotype |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nagtzaam, Ivo F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hoogeboom, A Jeannette M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bladergroen, Reno S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jonkman, Marcel F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Steijlen, Peter M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van Steensel, Maurice A M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van Geel, Michel |
| 773 0# - HOST ITEM ENTRY | |
| Title | Experimental dermatology |
| Related parts | vol. 24 |
| -- | no. 11 |
| -- | p. 883-5 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1111/exd.12786">https://doi.org/10.1111/exd.12786</a> |
| Public note | Available from publisher's website |
No items available.