Novel LRP5 gene mutation in a patient with osteoporosis-pseudoglioma syndrome. (Record no. 19473043)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01419 a2200421 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515203947.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201006s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1778-7254 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.jbspin.2009.11.013 |
| 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 | Marques-Pinheiro, Alice |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20100617 |
| 245 00 - TITLE STATEMENT | |
| Title | Novel LRP5 gene mutation in a patient with osteoporosis-pseudoglioma syndrome. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Joint bone spine |
| Date of publication, distribution, etc. | Mar 2010 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 151-3 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Blindness |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Bone Density |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Fractures, Bone |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Frameshift Mutation |
| 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 | LDL-Receptor Related Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Low Density Lipoprotein Receptor-Related Protein-5 |
| 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 | Osteoporosis |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sequence Analysis, DNA |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Syndrome |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Young Adult |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Levasseur, Régis |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cormier, Catherine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bonneau, Jessica |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Boileau, Catherine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Varret, Mathilde |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Abifadel, Marianne |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Allanore, Yannick |
| 773 0# - HOST ITEM ENTRY | |
| Title | Joint bone spine |
| Related parts | vol. 77 |
| -- | no. 2 |
| -- | p. 151-3 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.jbspin.2009.11.013">https://doi.org/10.1016/j.jbspin.2009.11.013</a> |
| Public note | Available from publisher's website |
No items available.