Novel human pathological mutations. Gene symbol: GLA. Disease: Fabry disease. (Record no. 19483368)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 00879 a2200289 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515204308.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201002s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1432-1203 |
| 040 ## - CATALOGING SOURCE | |
| Original cataloging agency | NLM |
| Language of cataloging | eng |
| Transcribing agency | NLM |
| 100 1# - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Lin, Hsiang-Yu |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20100217 |
| 245 00 - TITLE STATEMENT | |
| Title | Novel human pathological mutations. Gene symbol: GLA. Disease: Fabry disease. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Human genetics |
| Date of publication, distribution, etc. | Jan 2010 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 124 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Codon |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Fabry Disease |
| General subdivision | enzymology |
| 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 | Mutation, Missense |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | alpha-Galactosidase |
| General subdivision | blood |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chong, Kah-Wai |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hsu, Ju-Hui |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Yu, Hsiao-Chi |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Huang, Cheng-Hung |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Niu, Dau-Ming |
| 773 0# - HOST ITEM ENTRY | |
| Title | Human genetics |
| Related parts | vol. 127 |
| -- | no. 1 |
| -- | p. 124 |
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