Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study. (Record no. 21431509)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02456 a2200757 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516072208.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201206s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1098-1004 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1002/humu.22016 |
| 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 | Verhagen, Mijke M M |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20120608 |
| 245 00 - TITLE STATEMENT | |
| Title | Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Human mutation |
| Date of publication, distribution, etc. | Mar 2012 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 561-71 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Research Support, Non-U.S. Gov't |
| 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 | 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 | Genetic Association Studies |
| 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 | Middle Aged |
| 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 | Tumor Suppressor Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Young Adult |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Last, James I |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hogervorst, Frans B L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Smeets, Dominique F C M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Roeleveld, Nel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Verheijen, Frans |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Catsman-Berrevoets, Coriene E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wulffraat, Nico M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cobben, Jan M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hiel, Johan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Brunt, Ewout R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Peeters, Els A J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gómez Garcia, Encarna B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van der Knaap, Marjo S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lincke, Carsten R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Laan, Laura A E M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tijssen, Marina A J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van Rijn, Monique A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Majoor-Krakauer, Danielle |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Visser, Marjan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van 't Veer, Laura J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kleijer, Wim J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van de Warrenburg, Bart P C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Warris, Adilia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | de Groot, Imelda J M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | de Groot, Ronald |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Broeks, Annegien |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Preijers, Frank |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kremer, Berry H P H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Weemaes, Corry M R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Taylor, Malcolm A M R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van Deuren, Marcel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Willemsen, Michèl A A P |
| 773 0# - HOST ITEM ENTRY | |
| Title | Human mutation |
| Related parts | vol. 33 |
| -- | no. 3 |
| -- | p. 561-71 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/humu.22016">https://doi.org/10.1002/humu.22016</a> |
| Public note | Available from publisher's website |
No items available.