New mutations in the ATM gene and clinical data of 25 AT patients. (Record no. 21201541)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02242 a2200745 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516060049.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201203s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1364-6753 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1007/s10048-011-0299-0 |
| 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 | Demuth, Ilja |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20120330 |
| 245 00 - TITLE STATEMENT | |
| Title | New mutations in the ATM gene and clinical data of 25 AT patients. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Neurogenetics |
| Date of publication, distribution, etc. | Nov 2011 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 273-82 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Adolescent |
| 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 | Ataxia Telangiectasia |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Ataxia Telangiectasia Mutated Proteins |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cell Cycle Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Child |
| 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 | DNA-Binding 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 | Haplotypes |
| 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 |
| 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 | Protein Serine-Threonine Kinases |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | RNA Splicing |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Tumor Suppressor Proteins |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dutrannoy, Véronique |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Marques, Wilson |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Neitzel, Heidemarie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schindler, Detlev |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dimova, Petja S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chrzanowska, Krystyna H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bojinova, Veneta |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gregorek, Hanna |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Graul-Neumann, Luitgard M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | von Moers, Arpad |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schulze, Ilka |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nicke, Marion |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bora, Elcin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cankaya, Tufan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Oláh, Éva |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kiss, Csongor |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bessenyei, Beáta |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Szakszon, Katalin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gruber-Sedlmayr, Ursula |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kroisel, Peter Michael |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sodia, Sigrun |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Goecke, Timm O |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dörk, Thilo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Digweed, Martin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sperling, Karl |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | de Sá, Joaquim |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lourenco, Charles Marques |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Varon, Raymonda |
| 773 0# - HOST ITEM ENTRY | |
| Title | Neurogenetics |
| Related parts | vol. 12 |
| -- | no. 4 |
| -- | p. 273-82 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1007/s10048-011-0299-0">https://doi.org/10.1007/s10048-011-0299-0</a> |
| Public note | Available from publisher's website |
No items available.