Generalized epidermolytic hyperkeratosis in two unrelated children from parents with localized linear form, and prenatal diagnosis. (Record no. 16569371)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01566 a2200469 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515042022.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200612s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1523-1747 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1038/sj.jid.5700553 |
| 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 | Chassaing, Nicolas |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20061214 |
| 245 00 - TITLE STATEMENT | |
| Title | Generalized epidermolytic hyperkeratosis in two unrelated children from parents with localized linear form, and prenatal diagnosis. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | The Journal of investigative dermatology |
| Date of publication, distribution, etc. | Dec 2006 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 2715-7 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Letter; Research Support, Non-U.S. Gov't |
| 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 | DNA Mutational Analysis |
| 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 | Glutamic Acid |
| 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 | Hyperkeratosis, Epidermolytic |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Infant, Newborn |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Isoleucine |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Keratin-1 |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Keratin-10 |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Lysine |
| 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 | Phenylalanine |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Prenatal Diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Skin |
| General subdivision | pathology |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kanitakis, Jean |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sportich, Stéphanie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cordier-Alex, Marie-Pierre |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Titeux, Matthias |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Calvas, Patrick |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Claudy, Alain |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Berbis, P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hovnanian, Alain |
| 773 0# - HOST ITEM ENTRY | |
| Title | The Journal of investigative dermatology |
| Related parts | vol. 126 |
| -- | no. 12 |
| -- | p. 2715-7 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/sj.jid.5700553">https://doi.org/10.1038/sj.jid.5700553</a> |
| Public note | Available from publisher's website |
No items available.