X-linked Menkes disease: first documented report of germ-line mosaicism. (Record no. 15402097)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01503 a2200457 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250514220609.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200504s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1090-6576 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1089/gte.2004.8.286 |
| 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 | Poulsen, Lena |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20050401 |
| 245 00 - TITLE STATEMENT | |
| Title | X-linked Menkes disease: first documented report of germ-line mosaicism. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Genetic testing |
| Date of publication, distribution, etc. | 2004 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 286-91 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 | Adenosine Triphosphatases |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Biological Transport |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cation Transport Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cells, Cultured |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Copper |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Copper-Transporting ATPases |
| 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 | Fibroblasts |
| General subdivision | physiology |
| 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 | Germ-Line Mutation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Haplotypes |
| General subdivision | genetics |
| 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 | Menkes Kinky Hair Syndrome |
| 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 | Pedigree |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Recombinant Fusion Proteins |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Møller, Lisbeth Birk |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Plunkett, Katie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Belmont, John |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tümer, Zeynep |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Horn, Nina |
| 773 0# - HOST ITEM ENTRY | |
| Title | Genetic testing |
| Related parts | vol. 8 |
| -- | no. 3 |
| -- | p. 286-91 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1089/gte.2004.8.286">https://doi.org/10.1089/gte.2004.8.286</a> |
| Public note | Available from publisher's website |
No items available.