Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex. (Record no. 20883926)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02069 a2200697 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516041149.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201201s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1365-2133 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1111/j.1365-2133.2011.10428.x |
| 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 | García, M |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20120125 |
| 245 00 - TITLE STATEMENT | |
| Title | Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | The British journal of dermatology |
| Date of publication, distribution, etc. | Sep 2011 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 683-92 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 | Adolescent |
| 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 | Child, Preschool |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cohort Studies |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Consanguinity |
| 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 | Epidermolysis Bullosa Simplex |
| General subdivision | genetics |
| 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 | 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 | Infant |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Keratin-14 |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Keratin-5 |
| 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 | Mutation, Missense |
| General subdivision | genetics |
| 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 | Spain |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Young Adult |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Santiago, J L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Terrón, A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hernández-Martín, A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vicente, A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fortuny, C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | De Lucas, R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | López, J C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cuadrado-Corrales, N |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Holguín, A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Illera, N |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Duarte, B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sánchez-Jimeno, C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Llames, S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | García, E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ayuso, C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Martínez-Santamaría, L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Castiglia, D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | De Luca, N |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Torrelo, A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mechan, D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Baty, D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zambruno, G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Escámez, M J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Del Río, M |
| 773 0# - HOST ITEM ENTRY | |
| Title | The British journal of dermatology |
| Related parts | vol. 165 |
| -- | no. 3 |
| -- | p. 683-92 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1111/j.1365-2133.2011.10428.x">https://doi.org/10.1111/j.1365-2133.2011.10428.x</a> |
| Public note | Available from publisher's website |
No items available.