Novel variants and clinical symptoms in four new ALG3-CDG patients, review of the literature, and identification of AAGRP-ALG3 as a novel ALG3 variant with alanine and glycine-rich N-terminus. (Record no. 29669069)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02186 a2200649 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250518040122.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 202003s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1098-1004 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1002/humu.23764 |
| 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 | Himmelreich, Nastassja |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20200317 |
| 245 00 - TITLE STATEMENT | |
| Title | Novel variants and clinical symptoms in four new ALG3-CDG patients, review of the literature, and identification of AAGRP-ALG3 as a novel ALG3 variant with alanine and glycine-rich N-terminus. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Human mutation |
| Date of publication, distribution, etc. | 07 2019 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 938-951 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review |
| 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 | COS Cells |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cells, Cultured |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Child, Preschool |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chlorocebus aethiops |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Congenital Disorders of Glycosylation |
| 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 | Humans |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Infant |
| 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 | Mannosyltransferases |
| General subdivision | genetics |
| 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 | Open Reading Frames |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase |
| General subdivision | deficiency |
| 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 | Dimitrov, Bianca |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Geiger, Virginia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zielonka, Matthias |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hutter, Anna-Marlen |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Beedgen, Lars |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hüllen, Andreas |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Breuer, Maximilian |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Peters, Verena |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Thiemann, Kai-Christian |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hoffmann, Georg F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sinning, Irmgard |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dupré, Thierry |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vuillaumier-Barrot, Sandrine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Barrey, Catherine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Denecke, Jonas |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kölfen, Wolfgang |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Düker, Gesche |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ganschow, Rainer |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lentze, Michael J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Moore, Stuart |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Seta, Nathalie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ziegler, Andreas |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Thiel, Christian |
| 773 0# - HOST ITEM ENTRY | |
| Title | Human mutation |
| Related parts | vol. 40 |
| -- | no. 7 |
| -- | p. 938-951 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/humu.23764">https://doi.org/10.1002/humu.23764</a> |
| Public note | Available from publisher's website |
No items available.