Identification of 15 novel partial SHOX deletions and 13 partial duplications, and a review of the literature reveals intron 3 to be a hotspot region. (Record no. 26398073)
[ view plain ]
| 000 -LEADER | |
|---|---|
| fixed length control field | 01704 a2200469 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517113954.0 |
| 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 | 1435-232X |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1038/jhg.2016.113 |
| 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 | Benito-Sanz, Sara |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20170524 |
| 245 00 - TITLE STATEMENT | |
| Title | Identification of 15 novel partial SHOX deletions and 13 partial duplications, and a review of the literature reveals intron 3 to be a hotspot region. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Journal of human genetics |
| Date of publication, distribution, etc. | Feb 2017 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 229-234 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Review |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Base Sequence |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Comparative Genomic Hybridization |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Gene Duplication |
| General subdivision | genetics |
| 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 | Homeodomain Proteins |
| 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 | Introns |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Multiplex Polymerase Chain Reaction |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Nucleic Acid Amplification Techniques |
| 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 | Sequence Analysis, DNA |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sequence Deletion |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Short Stature Homeobox Protein |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Belinchon-Martínez, Alberta |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Aza-Carmona, Miriam |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | de la Torre, Carolina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Huber, Celine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | González-Casado, Isabel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ross, Judith L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Thomas, N Simon |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zinn, Andrew R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cormier-Daire, Valerie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Heath, Karen E |
| 773 0# - HOST ITEM ENTRY | |
| Title | Journal of human genetics |
| Related parts | vol. 62 |
| -- | no. 2 |
| -- | p. 229-234 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/jhg.2016.113">https://doi.org/10.1038/jhg.2016.113</a> |
| Public note | Available from publisher's website |
No items available.