Allelic spectrum of formiminotransferase-cyclodeaminase gene variants in individuals with formiminoglutamic aciduria. (Record no. 27828284)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01549 a2200457 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517185741.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201801s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 2324-9269 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1002/mgg3.333 |
| 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 | Majumdar, Ramanath |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20180119 |
| 245 00 - TITLE STATEMENT | |
| Title | Allelic spectrum of formiminotransferase-cyclodeaminase gene variants in individuals with formiminoglutamic aciduria. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Molecular genetics & genomic medicine |
| Date of publication, distribution, etc. | 11 2017 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 795-799 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 | Alleles |
| 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 | Ammonia-Lyases |
| General subdivision | genetics |
| 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 | Frameshift Mutation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Gene Deletion |
| 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 | Glutamate Formimidoyltransferase |
| General subdivision | deficiency |
| 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 | Metabolism, Inborn Errors |
| General subdivision | diagnosis |
| 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 | Open Reading Frames |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Polymorphism, Single Nucleotide |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Yori, Andrew |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rush, Peggy W |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Raymond, Kimiyo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gavrilov, Dimitar |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tortorelli, Silvia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Matern, Dietrich |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rinaldo, Piero |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Feldman, Gerald L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Oglesbee, Devin |
| 773 0# - HOST ITEM ENTRY | |
| Title | Molecular genetics & genomic medicine |
| Related parts | vol. 5 |
| -- | no. 6 |
| -- | p. 795-799 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/mgg3.333">https://doi.org/10.1002/mgg3.333</a> |
| Public note | Available from publisher's website |
No items available.