A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency. (Record no. 25518659)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02343 a2200757 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517065721.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201605s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1546-1718 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1038/ng.3465 |
| 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 | Jabara, Haifa H |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20160511 |
| 245 00 - TITLE STATEMENT | |
| Title | A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Nature genetics |
| Date of publication, distribution, etc. | Jan 2016 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 74-8 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Adaptive Immunity |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Anemia |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Animals |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Antigens, CD |
| General subdivision | genetics |
| 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 | Cell Cycle Proteins |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cells, Cultured |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Endocytosis |
| 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 | Fibroblasts |
| General subdivision | physiology |
| 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 | Immunologic Deficiency Syndromes |
| 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 | Mice, Inbred C57BL |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mice, Mutant Strains |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation, Missense |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Oncogene Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Oxidoreductases |
| 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 | Receptors, Transferrin |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Boyden, Steven E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chou, Janet |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ramesh, Narayanaswamy |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Massaad, Michel J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Benson, Halli |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bainter, Wayne |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fraulino, David |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rahimov, Fedik |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sieff, Colin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Liu, Zhi-Jian |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Alshemmari, Salem H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Al-Ramadi, Basel K |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Al-Dhekri, Hasan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Arnaout, Rand |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Abu-Shukair, Mohammad |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vatsayan, Anant |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Silver, Eli |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ahuja, Sanjay |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Davies, E Graham |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sola-Visner, Martha |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ohsumi, Toshiro K |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Andrews, Nancy C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Notarangelo, Luigi D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fleming, Mark D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Al-Herz, Waleed |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kunkel, Louis M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Geha, Raif S |
| 773 0# - HOST ITEM ENTRY | |
| Title | Nature genetics |
| Related parts | vol. 48 |
| -- | no. 1 |
| -- | p. 74-8 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/ng.3465">https://doi.org/10.1038/ng.3465</a> |
| Public note | Available from publisher's website |
No items available.