Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies. (Record no. 21355260)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01825 a2200529 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516065458.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201205s 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.2011.128 |
| 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 | Pagnamenta, Alistair T |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20120517 |
| 245 00 - TITLE STATEMENT | |
| Title | Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Journal of human genetics |
| Date of publication, distribution, etc. | Jan 2012 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 70-2 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | 1-Alkyl-2-acetylglycerophosphocholine Esterase |
| General subdivision | chemistry |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Amino Acid Sequence |
| 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 | Child |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Classical Lissencephalies and Subcortical Band Heterotopias |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exome |
| General subdivision | genetics |
| 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 | Gene Frequency |
| 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 | Magnetic Resonance Imaging |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Microtubule-Associated Proteins |
| General subdivision | chemistry |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Molecular Sequence Data |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mosaicism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sequence Analysis, DNA |
| General subdivision | methods |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lise, Stefano |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Harrison, Victoria |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stewart, Helen |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jayawant, Sandeep |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Quaghebeur, Gerardine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Deng, Alexander T |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Murphy, Valerie Elizabeth |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sadighi Akha, Elham |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rimmer, Andy |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mathieson, Iain |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Knight, Samantha J L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kini, Usha |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Taylor, Jenny C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Keays, David A |
| 773 0# - HOST ITEM ENTRY | |
| Title | Journal of human genetics |
| Related parts | vol. 57 |
| -- | no. 1 |
| -- | p. 70-2 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/jhg.2011.128">https://doi.org/10.1038/jhg.2011.128</a> |
| Public note | Available from publisher's website |
No items available.