Primary immunodeficiency caused by an exonized retroposed gene copy inserted in the CYBB gene. (Record no. 23498918)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01630 a2200529 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516193648.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201501s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1098-1004 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1002/humu.22519 |
| 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 | de Boer, Martin |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20150129 |
| 245 00 - TITLE STATEMENT | |
| Title | Primary immunodeficiency caused by an exonized retroposed gene copy inserted in the CYBB gene. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Human mutation |
| Date of publication, distribution, etc. | Apr 2014 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 486-96 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 | Adult |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA |
| General subdivision | analysis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA Methylation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA-Binding Proteins |
| 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 | Female |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Granulomatous Disease, Chronic |
| 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 | Introns |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Long Interspersed Nucleotide Elements |
| 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 | Membrane Glycoproteins |
| 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 | Mutagenesis, Insertional |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | NADPH Oxidase 2 |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | NADPH Oxidases |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Netherlands |
| 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 | RNA Splicing |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Transcription Factors |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Young Adult |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van Leeuwen, Karin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Geissler, Judy |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Weemaes, Corry M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van den Berg, Timo K |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kuijpers, Taco W |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Warris, Adilia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Roos, Dirk |
| 773 0# - HOST ITEM ENTRY | |
| Title | Human mutation |
| Related parts | vol. 35 |
| -- | no. 4 |
| -- | p. 486-96 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/humu.22519">https://doi.org/10.1002/humu.22519</a> |
| Public note | Available from publisher's website |
No items available.