Novel double heterozygous mutations in MEFV and NLRP3 genes in a patient with familial Mediterranean fever. (Record no. 23295363)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01309 a2200325 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516182518.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201409s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1536-7355 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1097/RHU.0000000000000044 |
| 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 | Timerman, Dmitriy |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20140929 |
| 245 00 - TITLE STATEMENT | |
| Title | Novel double heterozygous mutations in MEFV and NLRP3 genes in a patient with familial Mediterranean fever. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases |
| Date of publication, distribution, etc. | Dec 2013 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 452-3 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Carrier Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cytoskeletal Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA Mutational Analysis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Familial Mediterranean Fever |
| General subdivision | genetics |
| 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 | Humans |
| 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 |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | NLR Family, Pyrin Domain-Containing 3 Protein |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pyrin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Frank, Natasha Y |
| 773 0# - HOST ITEM ENTRY | |
| Title | Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases |
| Related parts | vol. 19 |
| -- | no. 8 |
| -- | p. 452-3 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1097/RHU.0000000000000044">https://doi.org/10.1097/RHU.0000000000000044</a> |
| Public note | Available from publisher's website |
No items available.