Detection of somatic and germline mosaicism for the LAMP2 gene mutation c.808dupG in a Chinese family with Danon disease. (Record no. 21910273)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01513 a2200457 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516101130.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201210s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1879-0038 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.gene.2012.06.064 |
| 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 | Chen, Xiao-Ling |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20121029 |
| 245 00 - TITLE STATEMENT | |
| Title | Detection of somatic and germline mosaicism for the LAMP2 gene mutation c.808dupG in a Chinese family with Danon disease. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Gene |
| Date of publication, distribution, etc. | Oct 2012 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 174-6 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 | Adolescent |
| 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 | Asian People |
| General subdivision | genetics |
| 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 | China |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA |
| 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 | Frameshift Mutation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Glycogen Storage Disease Type IIb |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Heterozygote |
| 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 | Lysosomal-Associated Membrane Protein 2 |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Lysosomal Membrane Proteins |
| 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 | 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 | X Chromosome Inactivation |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zhao, Yan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ke, Hai-Ping |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Liu, Wen-Ting |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Du, Zhen-Fang |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zhang, Xian-Ning |
| 773 0# - HOST ITEM ENTRY | |
| Title | Gene |
| Related parts | vol. 507 |
| -- | no. 2 |
| -- | p. 174-6 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.gene.2012.06.064">https://doi.org/10.1016/j.gene.2012.06.064</a> |
| Public note | Available from publisher's website |
No items available.