Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family. (Record no. 20247485)
[ view plain ]
| 000 -LEADER | |
|---|---|
| fixed length control field | 01970 a2200577 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516004759.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201102s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1945-7197 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1210/jc.2010-1539 |
| 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 | Morava, Eva |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20110204 |
| 245 00 - TITLE STATEMENT | |
| Title | Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | The Journal of clinical endocrinology and metabolism |
| Date of publication, distribution, etc. | Jan 2011 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | E189-98 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 | Ankylosis |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Bone Diseases, Metabolic |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Calcinosis |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Consanguinity |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Deafness |
| 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 | Hypophosphatemia |
| General subdivision | genetics |
| 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 | Joints |
| General subdivision | pathology |
| 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 | Phenotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Phosphate Transport Proteins |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kühnisch, Jirko |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Drijvers, Jefte M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Robben, Joris H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cremers, Cor |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van Setten, Petra |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Branten, Amanda |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stumpp, Sabine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | de Jong, Alphons |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Voesenek, Krysta |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vermeer, Sascha |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Heister, Angelien |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Claahsen-van der Grinten, Hedi L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | O'Neill, Charles W |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Willemsen, Michèl A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lefeber, Dirk |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Deen, Peter M T |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kornak, Uwe |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kremer, Hannie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wevers, Ron A |
| 773 0# - HOST ITEM ENTRY | |
| Title | The Journal of clinical endocrinology and metabolism |
| Related parts | vol. 96 |
| -- | no. 1 |
| -- | p. E189-98 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1210/jc.2010-1539">https://doi.org/10.1210/jc.2010-1539</a> |
| Public note | Available from publisher's website |
No items available.