New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report. (Record no. 26760561)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01286 a2200373 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517132951.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201705s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1471-2350 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1186/s12881-016-0364-5 |
| 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 | Blanco-Kelly, Fiona |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20170518 |
| 245 00 - TITLE STATEMENT | |
| Title | New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | BMC medical genetics |
| Date of publication, distribution, etc. | Jan 2017 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1 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-Binding Cassette Transporters |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cadherins |
| 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 | Hypotrichosis |
| General subdivision | congenital |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Macular Degeneration |
| 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 | Mutation |
| 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 | Young Adult |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rodrigues-Jacy da Silva, Luciana |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sanchez-Navarro, Iker |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Riveiro-Alvarez, Rosa |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lopez-Martinez, Miguel Angel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Corton, Marta |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ayuso, Carmen |
| 773 0# - HOST ITEM ENTRY | |
| Title | BMC medical genetics |
| Related parts | vol. 18 |
| -- | no. 1 |
| -- | p. 1 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1186/s12881-016-0364-5">https://doi.org/10.1186/s12881-016-0364-5</a> |
| Public note | Available from publisher's website |
No items available.