Duplicated Enhancer Region Increases Expression of CTSB and Segregates with Keratolytic Winter Erythema in South African and Norwegian Families. (Record no. 27127615)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02649 a2200817 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517152149.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201707s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1537-6605 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.ajhg.2017.03.012 |
| 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 | Ngcungcu, Thandiswa |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20170727 |
| 245 00 - TITLE STATEMENT | |
| Title | Duplicated Enhancer Region Increases Expression of CTSB and Segregates with Keratolytic Winter Erythema in South African and Norwegian Families. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of human genetics |
| Date of publication, distribution, etc. | May 2017 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 737-750 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Case-Control Studies |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cathepsin B |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chromosome Mapping |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chromosomes, Human, Pair 8 |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA Copy Number Variations |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA Glycosylases |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA-(Apurinic or Apyrimidinic Site) Lyase |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Enhancer Elements, Genetic |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Epidermis |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Epigenomics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Erythema |
| General subdivision | epidemiology |
| 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 Duplication |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Gene Expression Regulation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Markers |
| 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 | Keratosis |
| General subdivision | epidemiology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | MCF-7 Cells |
| 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 | Norway |
| General subdivision | epidemiology |
| 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 | Skin Diseases, Genetic |
| General subdivision | epidemiology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | South Africa |
| General subdivision | epidemiology |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Oti, Martin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sitek, Jan C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Haukanes, Bjørn I |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Linghu, Bolan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bruccoleri, Robert |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stokowy, Tomasz |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Oakeley, Edward J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Yang, Fan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zhu, Jiang |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sultan, Marc |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schalkwijk, Joost |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van Vlijmen-Willems, Ivonne M J J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | von der Lippe, Charlotte |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Brunner, Han G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ersland, Kari M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Grayson, Wayne |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Buechmann-Moller, Stine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sundnes, Olav |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nirmala, Nanguneri |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Morgan, Thomas M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van Bokhoven, Hans |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Steen, Vidar M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hull, Peter R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Szustakowski, Joseph |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Staedtler, Frank |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zhou, Huiqing |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fiskerstrand, Torunn |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ramsay, Michele |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of human genetics |
| Related parts | vol. 100 |
| -- | no. 5 |
| -- | p. 737-750 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ajhg.2017.03.012">https://doi.org/10.1016/j.ajhg.2017.03.012</a> |
| Public note | Available from publisher's website |
No items available.