Detection of an intragenic deletion expands the spectrum of CTSC mutations in Papillon-Lefèvre syndrome. (Record no. 17463408)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01558 a2200469 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515091924.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200802s 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.5700987 |
| 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 | Jouary, Thomas |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20080219 |
| 245 00 - TITLE STATEMENT | |
| Title | Detection of an intragenic deletion expands the spectrum of CTSC mutations in Papillon-Lefèvre syndrome. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | The Journal of investigative dermatology |
| Date of publication, distribution, etc. | Feb 2008 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 322-5 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 | Adult |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cathepsin C |
| General subdivision | genetics |
| 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 | DNA Mutational Analysis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Family Health |
| 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 | Gene Deletion |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Gene Dosage |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Testing |
| 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 | Male |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Papillon-Lefevre Disease |
| General subdivision | diagnosis |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Goizet, Cyril |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Coupry, Isabelle |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Redonnet-Vernhet, Isabelle |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Levade, Thierry |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Burgelin, Ingrid |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Toutain, Annick |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Delaporte, Emmanuel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Douillard, Claire |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lacombe, Didier |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Taieb, Alain |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Arveiler, Benoît |
| 773 0# - HOST ITEM ENTRY | |
| Title | The Journal of investigative dermatology |
| Related parts | vol. 128 |
| -- | no. 2 |
| -- | p. 322-5 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/sj.jid.5700987">https://doi.org/10.1038/sj.jid.5700987</a> |
| Public note | Available from publisher's website |
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