A 10-year follow-up of a child with mild case of xeroderma pigmentosum complementation group D diagnosed by whole-genome sequencing. (Record no. 25843126)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01555 a2200457 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517084907.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201802s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1600-0781 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1111/phpp.12240 |
| 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 | Ono, Ryusuke |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20180201 |
| 245 00 - TITLE STATEMENT | |
| Title | A 10-year follow-up of a child with mild case of xeroderma pigmentosum complementation group D diagnosed by whole-genome sequencing. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Photodermatology, photoimmunology & photomedicine |
| Date of publication, distribution, etc. | Jul 2016 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 174-80 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 | Child |
| 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 | Follow-Up Studies |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genome, Human |
| 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 | Humans |
| 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 | Mutation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Xeroderma Pigmentosum |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Xeroderma Pigmentosum Group D Protein |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Masaki, Taro |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mayca Pozo, Franklin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nakazawa, Yuka |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Swagemakers, Sigrid M A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nakano, Eiji |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sakai, Wataru |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Takeuchi, Seiji |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kanda, Fumio |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ogi, Tomoo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van der Spek, Peter J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sugasawa, Kaoru |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nishigori, Chikako |
| 773 0# - HOST ITEM ENTRY | |
| Title | Photodermatology, photoimmunology & photomedicine |
| Related parts | vol. 32 |
| -- | no. 4 |
| -- | p. 174-80 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1111/phpp.12240">https://doi.org/10.1111/phpp.12240</a> |
| Public note | Available from publisher's website |
No items available.