A novel mutation in the KCNJ8 gene encoding the Kir6.1 subunit of an ATP-sensitive potassium channel in a Japanese patient with Cantú syndrome. (Record no. 30783991)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01123 a2200301 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250518093114.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 202105s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1468-3083 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1111/jdv.16384 |
| 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 | Chihara, M |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20210514 |
| 245 00 - TITLE STATEMENT | |
| Title | A novel mutation in the KCNJ8 gene encoding the Kir6.1 subunit of an ATP-sensitive potassium channel in a Japanese patient with Cantú syndrome. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Journal of the European Academy of Dermatology and Venereology : JEADV |
| Date of publication, distribution, etc. | Sep 2020 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | e476-e478 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Letter |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cardiomegaly |
| 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 | Hypertrichosis |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Japan |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | KATP Channels |
| General subdivision | genetics |
| 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 | Osteochondrodysplasias |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Asahina, A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Itoh, M |
| 773 0# - HOST ITEM ENTRY | |
| Title | Journal of the European Academy of Dermatology and Venereology : JEADV |
| Related parts | vol. 34 |
| -- | no. 9 |
| -- | p. e476-e478 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1111/jdv.16384">https://doi.org/10.1111/jdv.16384</a> |
| Public note | Available from publisher's website |
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