The first COL7A1 mutation survey in a large Spanish dystrophic epidermolysis bullosa cohort: c.6527insC disclosed as an unusually recurrent mutation. (Record no. 19552945)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02112 a2200661 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515210618.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201012s 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.1365-2133.2010.09713.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 | Escámez, M J |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20101222 |
| 245 00 - TITLE STATEMENT | |
| Title | The first COL7A1 mutation survey in a large Spanish dystrophic epidermolysis bullosa cohort: c.6527insC disclosed as an unusually recurrent mutation. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | The British journal of dermatology |
| Date of publication, distribution, etc. | Jul 2010 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 155-61 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 |
| 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 | Collagen Type VII |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA Mutational Analysis |
| General subdivision | methods |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Epidermolysis Bullosa Dystrophica |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Association Studies |
| 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 | 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 | Mutation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Reverse Transcriptase Polymerase Chain Reaction |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Severity of Illness Index |
| 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 | García, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cuadrado-Corrales, N |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Llames, S G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Charlesworth, A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | De Luca, N |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Illera, N |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sánchez-Jimeno, C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Holguín, A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Duarte, B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Trujillo-Tiebas, M J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vicario, J L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Santiago, J L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hernández-Martín, A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Torrelo, A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Castiglia, D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ayuso, C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Larcher, F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jorcano, J L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Meana, A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Meneguzzi, G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zambruno, G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Del Rio, M |
| 773 0# - HOST ITEM ENTRY | |
| Title | The British journal of dermatology |
| Related parts | vol. 163 |
| -- | no. 1 |
| -- | p. 155-61 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1111/j.1365-2133.2010.09713.x">https://doi.org/10.1111/j.1365-2133.2010.09713.x</a> |
| Public note | Available from publisher's website |
No items available.