Usefulness of MLPA in the detection of SHOX deletions. (Record no. 19888001)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01424 a2200397 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515225508.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201101s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1878-0849 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.ejmg.2010.06.001 |
| 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 | Funari, Mariana F A |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20110111 |
| 245 00 - TITLE STATEMENT | |
| Title | Usefulness of MLPA in the detection of SHOX deletions. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | European journal of medical genetics |
| Date of publication, distribution, etc. | |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 234-8 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Gene Deletion |
| 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 | Haploinsufficiency |
| 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 | In Situ Hybridization, Fluorescence |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Microsatellite Repeats |
| 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 | Phenotype |
| 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 | Jorge, Alexander A L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Souza, Silvia C A L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Billerbeck, Ana E C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Arnhold, Ivo J P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mendonca, Berenice B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nishi, Mirian Y |
| 773 0# - HOST ITEM ENTRY | |
| Title | European journal of medical genetics |
| Related parts | vol. 53 |
| -- | no. 5 |
| -- | p. 234-8 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ejmg.2010.06.001">https://doi.org/10.1016/j.ejmg.2010.06.001</a> |
| Public note | Available from publisher's website |
No items available.