A novel deletion mutation in keratin 5 causing the removal of 5 amino acids and elevated mutant mRNA levels in Dowling-Meara epidermolysis bullosa simplex. (Record no. 15521130)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01330 a2200385 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250514224551.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200506s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 0022-202X |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1111/j.0022-202X.2005.23739.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 | Kemp, M W |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20050602 |
| 245 00 - TITLE STATEMENT | |
| Title | A novel deletion mutation in keratin 5 causing the removal of 5 amino acids and elevated mutant mRNA levels in Dowling-Meara epidermolysis bullosa simplex. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | The Journal of investigative dermatology |
| Date of publication, distribution, etc. | May 2005 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1083-5 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 | Amino Acid Sequence |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Base Sequence |
| 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 | Humans |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Keratin-5 |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Keratins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Molecular Sequence Data |
| 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 | RNA, Messenger |
| General subdivision | analysis |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Klingberg, S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lloyd, L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Molloy, T J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Marr, P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wang, Y |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Murrell, G A C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Murrell, D F |
| 773 0# - HOST ITEM ENTRY | |
| Title | The Journal of investigative dermatology |
| Related parts | vol. 124 |
| -- | no. 5 |
| -- | p. 1083-5 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1111/j.0022-202X.2005.23739.x">https://doi.org/10.1111/j.0022-202X.2005.23739.x</a> |
| Public note | Available from publisher's website |
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