Alu-repeat-induced deletions within the NCF2 gene causing p67-phox-deficient chronic granulomatous disease (CGD). (Record no. 19336788)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02122 a2200649 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515195455.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201004s 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.21156 |
| 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 | Gentsch, Marcus |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20100422 |
| 245 00 - TITLE STATEMENT | |
| Title | Alu-repeat-induced deletions within the NCF2 gene causing p67-phox-deficient chronic granulomatous disease (CGD). |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Human mutation |
| Date of publication, distribution, etc. | Feb 2010 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 151-8 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 | Alu Elements |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Base Sequence |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cell Line |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exons |
| General subdivision | genetics |
| 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 | Granulomatous Disease, Chronic |
| General subdivision | enzymology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Half-Life |
| 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 | Molecular Sequence Data |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutant Proteins |
| General subdivision | genetics |
| 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 | Phosphoproteins |
| General subdivision | chemistry |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Protein Stability |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Protein Structure, Secondary |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | RNA Stability |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | RNA, Messenger |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Reactive Oxygen Species |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Recombination, Genetic |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sequence Deletion |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kaczmarczyk, Aneta |
| 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 | Kaus-Drobek, Magdalena |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dagher, Marie-Claire |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kaiser, Petra |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Arkwright, Peter D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gahr, Manfred |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rösen-Wolff, Angela |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bochtler, Matthias |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Secord, Elizabeth |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Britto-Williams, Pamela |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Saifi, Gulam Mustafa |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Maddalena, Anne |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dbaibo, Ghassan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bustamante, Jacinta |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Casanova, Jean-Laurent |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Roos, Dirk |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Roesler, Joachim |
| 773 0# - HOST ITEM ENTRY | |
| Title | Human mutation |
| Related parts | vol. 31 |
| -- | no. 2 |
| -- | p. 151-8 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/humu.21156">https://doi.org/10.1002/humu.21156</a> |
| Public note | Available from publisher's website |
No items available.