A new splice site mutation in the SMN1 gene causes discrepant results in SMN1 deletion screening approaches. (Record no. 17667061)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01543 a2200421 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515102716.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200806s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 0960-8966 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.nmd.2007.10.003 |
| 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 | Eggermann, Thomas |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20080609 |
| 245 00 - TITLE STATEMENT | |
| Title | A new splice site mutation in the SMN1 gene causes discrepant results in SMN1 deletion screening approaches. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Neuromuscular disorders : NMD |
| Date of publication, distribution, etc. | Feb 2008 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 146-9 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 | Cyclic AMP Response Element-Binding Protein |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Fatal Outcome |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Testing |
| General subdivision | methods |
| 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 | Male |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Muscular Atrophy, Spinal |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Nerve Tissue Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Point Mutation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | RNA Splicing |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | RNA-Binding Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Reproducibility of Results |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Reverse Transcriptase Polymerase Chain Reaction |
| General subdivision | standards |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | SMN Complex Proteins |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Survival of Motor Neuron 1 Protein |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Eggermann, Katja |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Elbracht, Miriam |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zerres, Klaus |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rudnik-Schöneborn, Sabine |
| 773 0# - HOST ITEM ENTRY | |
| Title | Neuromuscular disorders : NMD |
| Related parts | vol. 18 |
| -- | no. 2 |
| -- | p. 146-9 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.nmd.2007.10.003">https://doi.org/10.1016/j.nmd.2007.10.003</a> |
| Public note | Available from publisher's website |
No items available.