A novel gain-of-function IKBA mutation underlies ectodermal dysplasia with immunodeficiency and polyendocrinopathy. (Record no. 22781959)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02174 a2200637 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516152343.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201312s 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/s10875-013-9906-1 |
| 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 | Schimke, Lena F |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20131210 |
| 245 00 - TITLE STATEMENT | |
| Title | A novel gain-of-function IKBA mutation underlies ectodermal dysplasia with immunodeficiency and polyendocrinopathy. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Journal of clinical immunology |
| Date of publication, distribution, etc. | Aug 2013 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1088-99 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 | Active Transport, Cell Nucleus |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cell Nucleus |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Child, Preschool |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cytokines |
| General subdivision | immunology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Ectodermal Dysplasia |
| General subdivision | immunology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Fibroblasts |
| General subdivision | immunology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | HeLa Cells |
| 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 | I-kappa B Kinase |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Immunologic Deficiency Syndromes |
| General subdivision | immunology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Infant |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Lymphocyte Activation |
| General subdivision | genetics |
| 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 | Mutation, Missense |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Polyendocrinopathies, Autoimmune |
| General subdivision | immunology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Proteolysis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Th17 Cells |
| General subdivision | immunology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Transgenes |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rieber, Nikolaus |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rylaarsdam, Stacey |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cabral-Marques, Otávio |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hubbard, Nicholas |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Puel, Anne |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kallmann, Laura |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sombke, Stephanie Anover |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Notheis, Gundula |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schwarz, Hans-Peter |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kammer, Birgit |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hökfelt, Tomas |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Repp, Reinald |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Picard, Capucine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Casanova, Jean-Laurent |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Belohradsky, Bernd H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Albert, Michael H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ochs, Hans D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Renner, Ellen D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Torgerson, Troy R |
| 773 0# - HOST ITEM ENTRY | |
| Title | Journal of clinical immunology |
| Related parts | vol. 33 |
| -- | no. 6 |
| -- | p. 1088-99 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1007/s10875-013-9906-1">https://doi.org/10.1007/s10875-013-9906-1</a> |
| Public note | Available from publisher's website |
No items available.