Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability. (Record no. 29004872)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02138 a2200661 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250518004854.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201905s 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.2018.10.004 |
| 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 | Schlingmann, Karl P |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20190514 |
| 245 00 - TITLE STATEMENT | |
| Title | Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of human genetics |
| Date of publication, distribution, etc. | 11 2018 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 808-816 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Child |
| 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 | Female |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Germ Cells |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Heterozygote |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Homeostasis |
| General subdivision | genetics |
| 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 | Infant, Newborn |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Intellectual Disability |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Kidney |
| General subdivision | pathology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Magnesium |
| General subdivision | metabolism |
| 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 | Mutation |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Phenotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Protein Isoforms |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Renal Tubular Transport, Inborn Errors |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Seizures |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sodium-Potassium-Exchanging ATPase |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bandulik, Sascha |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mammen, Cherry |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tarailo-Graovac, Maja |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Holm, Rikke |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Baumann, Matthias |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | König, Jens |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lee, Jessica J Y |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Drögemöller, Britt |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Imminger, Katrin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Beck, Bodo B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Altmüller, Janine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Thiele, Holger |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Waldegger, Siegfried |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Van't Hoff, William |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kleta, Robert |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Warth, Richard |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van Karnebeek, Clara D M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vilsen, Bente |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bockenhauer, Detlef |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Konrad, Martin |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of human genetics |
| Related parts | vol. 103 |
| -- | no. 5 |
| -- | p. 808-816 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ajhg.2018.10.004">https://doi.org/10.1016/j.ajhg.2018.10.004</a> |
| Public note | Available from publisher's website |
No items available.