An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome. (Record no. 12688800)
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|---|---|
| fixed length control field | 02382 a2200745 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250514074952.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200404s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 0964-6906 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1093/hmg/ddg234 |
| 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 | McLean, W H Irwin |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20040415 |
| 245 00 - TITLE STATEMENT | |
| Title | An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Human molecular genetics |
| Date of publication, distribution, etc. | Sep 2003 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 2395-409 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chromosomes, Human, Pair 18 |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chronic Disease |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Codon, Terminator |
| 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 | DNA |
| General subdivision | genetics |
| 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 | Exons |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Family |
| 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 | France |
| General subdivision | ethnology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Linkage |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Granulation Tissue |
| General subdivision | pathology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Haplotypes |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Homozygote |
| 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 | Keratinocytes |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Laminin |
| General subdivision | chemistry |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Lod Score |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pakistan |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Protein Biosynthesis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Protein Isoforms |
| General subdivision | chemistry |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Protein Structure, Tertiary |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Syndrome |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | United Kingdom |
| General subdivision | ethnology |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Irvine, Alan D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hamill, Kevin J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Whittock, Neil V |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Coleman-Campbell, Carrie M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mellerio, Jemima E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ashton, Gabrielle S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dopping-Hepenstal, Patricia J H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Eady, Robin A J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jamil, Tanvir |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Phillips, Roderic J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Shabbir, S Ghulam |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Haroon, Tahir S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Khurshid, Khawar |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Moore, Jonathan E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Page, Brian |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Darling, Jonathan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Atherton, David J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Van Steensel, Maurice A M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Munro, Colin S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Smith, Frances J D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | McGrath, John A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Phillips, Rodney J |
| 773 0# - HOST ITEM ENTRY | |
| Title | Human molecular genetics |
| Related parts | vol. 12 |
| -- | no. 18 |
| -- | p. 2395-409 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1093/hmg/ddg234">https://doi.org/10.1093/hmg/ddg234</a> |
| Public note | Available from publisher's website |
No items available.