Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy. (Record no. 23791630)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01718 a2200541 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516211730.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201406s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1537-6605 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.ajhg.2014.04.003 |
| 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 | Sergouniotis, Panagiotis I |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20140627 |
| 245 00 - TITLE STATEMENT | |
| Title | Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of human genetics |
| Date of publication, distribution, etc. | May 2014 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 760-9 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Research Support, N.I.H., Extramural; 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 | Alleles |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Animals |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Carrier Proteins |
| 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 | Genes, Recessive |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Variation |
| 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 | Male |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mice |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Middle Aged |
| 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 | Pedigree |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Peptide Synthases |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Retinal Dystrophies |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chakarova, Christina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Murphy, Cian |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Becker, Mirjana |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lenassi, Eva |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Arno, Gavin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lek, Monkol |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | MacArthur, Daniel G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bhattacharya, Shomi S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Moore, Anthony T |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Holder, Graham E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Robson, Anthony G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wolfrum, Uwe |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Webster, Andrew R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Plagnol, Vincent |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of human genetics |
| Related parts | vol. 94 |
| -- | no. 5 |
| -- | p. 760-9 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ajhg.2014.04.003">https://doi.org/10.1016/j.ajhg.2014.04.003</a> |
| Public note | Available from publisher's website |
No items available.