A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndrome. (Record no. 26839983)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01836 a2200541 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517135340.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201801s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1435-232X |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1038/jhg.2017.11 |
| 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 | Inui, Takehiko |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20180118 |
| 245 00 - TITLE STATEMENT | |
| Title | A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndrome. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Journal of human genetics |
| Date of publication, distribution, etc. | Jun 2017 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 653-655 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 | ATP-Dependent Proteases |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Child |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Craniofacial Abnormalities |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exome |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Eye Abnormalities |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Frameshift Mutation |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Predisposition to Disease |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Growth Disorders |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Hip Dislocation, Congenital |
| General subdivision | genetics |
| 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 | Intellectual Disability |
| 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 | Mitochondrial Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Osteochondrodysplasias |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Protein Domains |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Spinocerebellar Degenerations |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Tooth Abnormalities |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Anzai, Mai |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Takezawa, Yusuke |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Endo, Wakaba |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kakisaka, Yosuke |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kikuchi, Atsuo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Onuma, Akira |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kure, Shigeo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nishino, Ichizo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ohba, Chihiro |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Saitsu, Hirotomo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Matsumoto, Naomichi |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Haginoya, Kazuhiro |
| 773 0# - HOST ITEM ENTRY | |
| Title | Journal of human genetics |
| Related parts | vol. 62 |
| -- | no. 6 |
| -- | p. 653-655 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/jhg.2017.11">https://doi.org/10.1038/jhg.2017.11</a> |
| Public note | Available from publisher's website |
No items available.