A novel pathogenic frameshift variant of CD3E gene in two T-B+ NK+ SCID patients from Turkey. (Record no. 27261132)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01780 a2200565 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517160245.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201712s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1432-1211 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1007/s00251-017-1005-7 |
| 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 | Firtina, Sinem |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20171206 |
| 245 00 - TITLE STATEMENT | |
| Title | A novel pathogenic frameshift variant of CD3E gene in two T-B+ NK+ SCID patients from Turkey. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Immunogenetics |
| Date of publication, distribution, etc. | 10 2017 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 653-659 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 | Base Sequence |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | CD3 Complex |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cell Proliferation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Consanguinity |
| 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 | Frameshift Mutation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Gene Expression |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Heterozygote |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | High-Throughput Nucleotide Sequencing |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Homozygote |
| 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 | 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 | Pedigree |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sequence Deletion |
| 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 | Siblings |
| 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 | Turkey |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ng, Yuk Yin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ng, Ozden Hatirnaz |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nepesov, Serdar |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Yesilbas, Osman |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kilercik, Meltem |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Burtecene, Nihan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cinar, Suzan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Camcioglu, Yildiz |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ozbek, Ugur |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sayitoglu, Muge |
| 773 0# - HOST ITEM ENTRY | |
| Title | Immunogenetics |
| Related parts | vol. 69 |
| -- | no. 10 |
| -- | p. 653-659 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1007/s00251-017-1005-7">https://doi.org/10.1007/s00251-017-1005-7</a> |
| Public note | Available from publisher's website |
No items available.