Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations. (Record no. 19855877)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01772 a2200529 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515224432.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201008s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1552-4833 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1002/ajmg.a.33414 |
| 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 | Nishimura, Gen |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20100830 |
| 245 00 - TITLE STATEMENT | |
| Title | Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of medical genetics. Part A |
| Date of publication, distribution, etc. | Jun 2010 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1443-9 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 | Adult |
| 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 | Female |
| 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 | Mucopolysaccharidosis II |
| General subdivision | diagnostic imaging |
| 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 | Osteochondrodysplasias |
| General subdivision | diagnostic imaging |
| 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 | Radiography |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | TRPV Cation Channels |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dai, Jin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lausch, Ekkehart |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Unger, Sheila |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Megarbané, André |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kitoh, Hiroshi |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kim, Ok Hwa |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cho, Tae-Joon |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bedeschi, Francesca |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Benedicenti, Francesco |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mendoza-Londono, Roberto |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Silengo, Margherita |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schmidt-Rimpler, Maren |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Spranger, Jurgen |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zabel, Bernhard |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ikegawa, Shiro |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Superti-Furga, Andrea |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of medical genetics. Part A |
| Related parts | vol. 152A |
| -- | no. 6 |
| -- | p. 1443-9 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/ajmg.a.33414">https://doi.org/10.1002/ajmg.a.33414</a> |
| Public note | Available from publisher's website |
No items available.