Revertant mosaicism in a human skin fragility disorder results from slipped mispairing and mitotic recombination. (Record no. 21669263)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01742 a2200529 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516084549.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201206s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1558-8238 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1172/JCI61976 |
| 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 | Kiritsi, Dimitra |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20120629 |
| 245 00 - TITLE STATEMENT | |
| Title | Revertant mosaicism in a human skin fragility disorder results from slipped mispairing and mitotic recombination. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | The Journal of clinical investigation |
| Date of publication, distribution, etc. | May 2012 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1742-6 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; 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 | Base Sequence |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Blister |
| General subdivision | genetics |
| 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 | Consanguinity |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Epidermolysis Bullosa |
| 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 | Frameshift Mutation |
| 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 | INDEL Mutation |
| 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 | Membrane Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mosaicism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Neoplasm Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Periodontal Diseases |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Photosensitivity Disorders |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Recombination, Genetic |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Remission, Spontaneous |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Skin |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Young Adult |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | He, Yinghong |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pasmooij, Anna M G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Onder, Meltem |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Happle, Rudolf |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jonkman, Marcel F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bruckner-Tuderman, Leena |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Has, Cristina |
| 773 0# - HOST ITEM ENTRY | |
| Title | The Journal of clinical investigation |
| Related parts | vol. 122 |
| -- | no. 5 |
| -- | p. 1742-6 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1172/JCI61976">https://doi.org/10.1172/JCI61976</a> |
| Public note | Available from publisher's website |
No items available.