Accuracy of marker analysis, quantitative real-time polymerase chain reaction, and multiple ligation-dependent probe amplification to determine SMN2 copy number in patients with spinal muscular atrophy. (Record no. 20812376)
[ view plain ]
| 000 -LEADER | |
|---|---|
| fixed length control field | 01817 a2200457 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516034836.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201303s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1945-0257 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1089/gtmb.2010.0253 |
| 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 | Alías, Laura |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20130314 |
| 245 00 - TITLE STATEMENT | |
| Title | Accuracy of marker analysis, quantitative real-time polymerase chain reaction, and multiple ligation-dependent probe amplification to determine SMN2 copy number in patients with spinal muscular atrophy. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Genetic testing and molecular biomarkers |
| Date of publication, distribution, etc. | Sep 2011 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 587-94 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Evaluation 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 Dosage |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Markers |
| 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 | Infant |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Ligase Chain Reaction |
| General subdivision | methods |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Microsatellite Repeats |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Models, Biological |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Multiplex Polymerase Chain Reaction |
| General subdivision | methods |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Muscular Atrophy, Spinal |
| General subdivision | diagnosis |
| 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 | Real-Time Polymerase Chain Reaction |
| General subdivision | methods |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Reproducibility of Results |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sensitivity and Specificity |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Survival of Motor Neuron 2 Protein |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bernal, Sara |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Barceló, Maria J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Also-Rallo, Eva |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Martínez-Hernández, Rebeca |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rodríguez-Alvarez, Francisco J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hernández-Chico, Concepción |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Baiget, Montserrat |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tizzano, Eduardo F |
| 773 0# - HOST ITEM ENTRY | |
| Title | Genetic testing and molecular biomarkers |
| Related parts | vol. 15 |
| -- | no. 9 |
| -- | p. 587-94 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1089/gtmb.2010.0253">https://doi.org/10.1089/gtmb.2010.0253</a> |
| Public note | Available from publisher's website |
No items available.