Palmoplantar keratoderma of the Gamborg-Nielsen type is caused by mutations in the SLURP1 gene and represents a variant of Mal de Meleda. (Record no. 23617685)
[ view plain ]
| 000 -LEADER | |
|---|---|
| fixed length control field | 01567 a2200469 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516201745.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201507s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1651-2057 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.2340/00015555-1840 |
| 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 | Zhao, Linshu |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20150707 |
| 245 00 - TITLE STATEMENT | |
| Title | Palmoplantar keratoderma of the Gamborg-Nielsen type is caused by mutations in the SLURP1 gene and represents a variant of Mal de Meleda. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Acta dermato-venereologica |
| Date of publication, distribution, etc. | Nov 2014 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 707-10 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 | Adult |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Antigens, Ly |
| General subdivision | genetics |
| 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 | DNA Mutational Analysis |
| 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 | Genetic Predisposition to Disease |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Haplotypes |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Heterozygote |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Homozygote |
| 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 | Keratoderma, Palmoplantar |
| General subdivision | classification |
| 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 |
| 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 | Sweden |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Urokinase-Type Plasminogen Activator |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vahlquist, Anders |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Virtanen, Marie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wennerstrand, Lena |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lind, Lisbet K |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lundström, Anita |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hellström Pigg, Maritta |
| 773 0# - HOST ITEM ENTRY | |
| Title | Acta dermato-venereologica |
| Related parts | vol. 94 |
| -- | no. 6 |
| -- | p. 707-10 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.2340/00015555-1840">https://doi.org/10.2340/00015555-1840</a> |
| Public note | Available from publisher's website |
No items available.