Mutations in CHD7 in patients with CHARGE syndrome cause T-B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome. (Record no. 17998876)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01766 a2200529 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515122214.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200807s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1365-2249 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1111/j.1365-2249.2008.03681.x |
| 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 | Gennery, A R |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20080725 |
| 245 00 - TITLE STATEMENT | |
| Title | Mutations in CHD7 in patients with CHARGE syndrome cause T-B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Clinical and experimental immunology |
| Date of publication, distribution, etc. | Jul 2008 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 75-80 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 | B-Lymphocytes |
| General subdivision | immunology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA Helicases |
| General subdivision | genetics |
| 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 | Disease Progression |
| 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 | Genotype |
| 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 | Infant |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Infant, Newborn |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Killer Cells, Natural |
| General subdivision | immunology |
| 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 |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Severe Combined Immunodeficiency |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Syndrome |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | T-Lymphocytes |
| General subdivision | immunology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Thymus Gland |
| General subdivision | abnormalities |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Slatter, M A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rice, J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hoefsloot, L H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Barge, D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | McLean-Tooke, A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Montgomery, T |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Goodship, J A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Burt, A D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Flood, T J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Abinun, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cant, A J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Johnson, D |
| 773 0# - HOST ITEM ENTRY | |
| Title | Clinical and experimental immunology |
| Related parts | vol. 153 |
| -- | no. 1 |
| -- | p. 75-80 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1111/j.1365-2249.2008.03681.x">https://doi.org/10.1111/j.1365-2249.2008.03681.x</a> |
| Public note | Available from publisher's website |
No items available.