Novel human pathological mutations. Gene symbol: ASS1. Disease: Citrullinaemia. (Record no. 19096442)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01251 a2200421 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515183436.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200909s 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 | Dimmock, David |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20090908 |
| 245 00 - TITLE STATEMENT | |
| Title | Novel human pathological mutations. Gene symbol: ASS1. Disease: Citrullinaemia. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Human genetics |
| Date of publication, distribution, etc. | Aug 2009 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 342 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 | Argininosuccinate Synthase |
| 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 | Citrullinemia |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Codon |
| 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 | Humans |
| 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 | Mutation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Nucleotides |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Trapane, Pamela |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Feigenbaum, Annette |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Keegan, Catherine E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cederbaum, Stephen |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gibson, James |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gambello, Michael J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vaux, Keith |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ward, Patricia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rice, Gregory M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wolff, Jon A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | O'Brien, William E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fang, Ping |
| 773 0# - HOST ITEM ENTRY | |
| Title | Human genetics |
| Related parts | vol. 126 |
| -- | no. 2 |
| -- | p. 342 |
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