The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2. (Record no. 15651722)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01727 a2200553 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250514232813.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200605s 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/jmg.2004.029504 |
| 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 | Baser, M E |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20060518 |
| 245 00 - TITLE STATEMENT | |
| Title | The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Journal of medical genetics |
| Date of publication, distribution, etc. | Jul 2005 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 540-6 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.; Review |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Alternative Splicing |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Animals |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Databases, Genetic |
| 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 | Genotype |
| 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 | Mutation |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Neurofibromatosis 2 |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Neurofibromin 2 |
| General subdivision | genetics |
| 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 | Severity of Illness Index |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Survival Analysis |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kuramoto, L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Woods, R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Joe, H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Friedman, J M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wallace, A J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ramsden, R T |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Olschwang, S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bijlsma, E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kalamarides, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Papi, L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kato, R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Carroll, J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lázaro, C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Joncourt, F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Parry, D M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rouleau, G A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Evans, D G R |
| 773 0# - HOST ITEM ENTRY | |
| Title | Journal of medical genetics |
| Related parts | vol. 42 |
| -- | no. 7 |
| -- | p. 540-6 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1136/jmg.2004.029504">https://doi.org/10.1136/jmg.2004.029504</a> |
| Public note | Available from publisher's website |
No items available.