Rare duplication or deletion of exons 6, 7 and 8 in CYBB leading to X-linked chronic granulomatous disease in two patients from different families. (Record no. 21590063)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01755 a2200517 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516081709.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201301s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1573-2592 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1007/s10875-012-9667-2 |
| 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 | Stasia, Marie José |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20130122 |
| 245 00 - TITLE STATEMENT | |
| Title | Rare duplication or deletion of exons 6, 7 and 8 in CYBB leading to X-linked chronic granulomatous disease in two patients from different families. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Journal of clinical immunology |
| Date of publication, distribution, etc. | Aug 2012 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 653-62 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 | Adolescent |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Child |
| 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 | Gene Duplication |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Diseases, X-Linked |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Predisposition to Disease |
| 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 | 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 | Mutation |
| 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 | Sequence Deletion |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van Leeuwen, Karin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | de Boer, Martin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Martel, Cecile |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mollin, Michele |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Thuret, Isabelle |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Michel, Gerard |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hanson, Celine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Augustine, Nancy H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Coutton, Charles |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Satre, Véronique |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wittwer, Carl T |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hill, Harry |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Roos, Dirk |
| 773 0# - HOST ITEM ENTRY | |
| Title | Journal of clinical immunology |
| Related parts | vol. 32 |
| -- | no. 4 |
| -- | p. 653-62 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1007/s10875-012-9667-2">https://doi.org/10.1007/s10875-012-9667-2</a> |
| Public note | Available from publisher's website |
No items available.