Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene. (Record no. 19944954)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01963 a2200601 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515231348.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201007s 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.2010.06.008 |
| 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 | Sun, Yu |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20100728 |
| 245 00 - TITLE STATEMENT | |
| Title | Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of human genetics |
| Date of publication, distribution, etc. | Jul 2010 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 146-53 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 | Bone Diseases, Developmental |
| General subdivision | complications |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Bone Neoplasms |
| General subdivision | complications |
| 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 | Contractile 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 | Fibroma |
| General subdivision | complications |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Filamins |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Association Studies |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Diseases, X-Linked |
| 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 | Male |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Microfilament Proteins |
| 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 | Neoplasm Recurrence, Local |
| 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 | Pigmentation Disorders |
| General subdivision | complications |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Skin Pigmentation |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Almomani, Rowida |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Aten, Emmelien |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Celli, Jacopo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van der Heijden, Jaap |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Venselaar, Hanka |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Robertson, Stephen P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Baroncini, Anna |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Franco, Brunella |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Basel-Vanagaite, Lina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Horii, Emiko |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Drut, Ricardo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ariyurek, Yavuz |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | den Dunnen, Johan T |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Breuning, Martijn H |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of human genetics |
| Related parts | vol. 87 |
| -- | no. 1 |
| -- | p. 146-53 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ajhg.2010.06.008">https://doi.org/10.1016/j.ajhg.2010.06.008</a> |
| Public note | Available from publisher's website |
No items available.