Dystrophic epidermolysis bullosa inversa with COL7A1 mutations and absence of GDA-J/F3 protein. (Record no. 12572679)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01623 a2200493 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250514071045.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200310s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 0736-8046 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1046/j.1525-1470.2003.20312.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 | Kahofer, Peter |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20031002 |
| 245 00 - TITLE STATEMENT | |
| Title | Dystrophic epidermolysis bullosa inversa with COL7A1 mutations and absence of GDA-J/F3 protein. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Pediatric dermatology |
| Date of publication, distribution, etc. | |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 243-8 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article |
| 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 | Biopsy, Needle |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cell Adhesion Molecules, Neuronal |
| 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 | Collagen Type VII |
| General subdivision | genetics |
| 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 Dystrophica |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Fluorescent Antibody Technique, Indirect |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genes, Recessive |
| 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 | Heterozygote |
| 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 | Immunohistochemistry |
| 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 | Microscopy, Immunoelectron |
| 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 | Netherlands |
| 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 | Prognosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Risk Assessment |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bruckner-Tuderman, Leena |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Metze, Dieter |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lemmink, Henny |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Scheffer, Hans |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Smolle, Josef |
| 773 0# - HOST ITEM ENTRY | |
| Title | Pediatric dermatology |
| Related parts | vol. 20 |
| -- | no. 3 |
| -- | p. 243-8 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1046/j.1525-1470.2003.20312.x">https://doi.org/10.1046/j.1525-1470.2003.20312.x</a> |
| Public note | Available from publisher's website |
No items available.