Evaluation of somatic mutations in tibial pseudarthrosis samples in neurofibromatosis type 1. (Record no. 24557231)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01555 a2200433 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517013247.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201512s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1468-6244 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1136/jmedgenet-2014-102815 |
| 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 | Sant, David W |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20151221 |
| 245 00 - TITLE STATEMENT | |
| Title | Evaluation of somatic mutations in tibial pseudarthrosis samples in neurofibromatosis type 1. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Journal of medical genetics |
| Date of publication, distribution, etc. | Apr 2015 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 256-61 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S. |
| 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 | DNA Mutational Analysis |
| 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 | Genes, Neurofibromatosis 1 |
| 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 | Mutation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Neurofibromatosis 1 |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pseudarthrosis |
| General subdivision | genetics |
| 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 | Tibia |
| General subdivision | diagnostic imaging |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Margraf, Rebecca L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stevenson, David A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Grossmann, Allie H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Viskochil, David H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hanson, Heather |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Everitt, Melanie D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rios, Jonathan J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Elefteriou, Florent |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hennessey, Theresa |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mao, Rong |
| 773 0# - HOST ITEM ENTRY | |
| Title | Journal of medical genetics |
| Related parts | vol. 52 |
| -- | no. 4 |
| -- | p. 256-61 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1136/jmedgenet-2014-102815">https://doi.org/10.1136/jmedgenet-2014-102815</a> |
| Public note | Available from publisher's website |
No items available.