A novel LIPE nonsense mutation found using exome sequencing in siblings with late-onset familial partial lipodystrophy. (Record no. 24428760)
[ view plain ]
| 000 -LEADER | |
|---|---|
| fixed length control field | 01593 a2200493 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517005058.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201502s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1916-7075 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.cjca.2014.09.007 |
| 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 | Farhan, Sali M K |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20150218 |
| 245 00 - TITLE STATEMENT | |
| Title | A novel LIPE nonsense mutation found using exome sequencing in siblings with late-onset familial partial lipodystrophy. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | The Canadian journal of cardiology |
| Date of publication, distribution, etc. | Dec 2014 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1649-54 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Adult |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Codon, Nonsense |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA Mutational Analysis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exome |
| 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 | Follow-Up Studies |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Linkage |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Homozygote |
| 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 | Lipodystrophy, Familial Partial |
| 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 | Pedigree |
| 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 | Retrospective Studies |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Siblings |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sterol Esterase |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Robinson, John F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | McIntyre, Adam D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Marrosu, Maria G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ticca, Anna F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Loddo, Sara |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Carboni, Nicola |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Brancati, Francesco |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hegele, Robert A |
| 773 0# - HOST ITEM ENTRY | |
| Title | The Canadian journal of cardiology |
| Related parts | vol. 30 |
| -- | no. 12 |
| -- | p. 1649-54 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.cjca.2014.09.007">https://doi.org/10.1016/j.cjca.2014.09.007</a> |
| Public note | Available from publisher's website |
No items available.