Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia. (Record no. 20389136)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02166 a2200661 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516013137.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201101s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1537-6605 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.ajhg.2010.10.015 |
| 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 | Vermeer, Sascha |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20110118 |
| 245 00 - TITLE STATEMENT | |
| Title | Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of human genetics |
| Date of publication, distribution, etc. | Dec 2010 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 813-9 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 | Anoctamin-1 |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cerebellar Ataxia |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chloride Channels |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genes, Recessive |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Homozygote |
| 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 | Membrane Proteins |
| General subdivision | genetics |
| 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 | Neoplasm Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Polymorphism, Single Nucleotide |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hoischen, Alexander |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Meijer, Rowdy P P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gilissen, Christian |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Neveling, Kornelia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wieskamp, Nienke |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | de Brouwer, Arjan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Koenig, Michel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Anheim, Mathieu |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Assoum, Mirna |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Drouot, Nathalie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Todorovic, Slobodanka |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Milic-Rasic, Vedrana |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lochmüller, Hanns |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stevanin, Giovanni |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Goizet, Cyril |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | David, Albert |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Durr, Alexandra |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Brice, Alexis |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kremer, Berry |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van de Warrenburg, Bart P C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schijvenaars, Mascha M V A P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Heister, Angelien |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kwint, Michael |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Arts, Peer |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van der Wijst, Jenny |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Veltman, Joris |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kamsteeg, Erik-Jan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Scheffer, Hans |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Knoers, Nine |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of human genetics |
| Related parts | vol. 87 |
| -- | no. 6 |
| -- | p. 813-9 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ajhg.2010.10.015">https://doi.org/10.1016/j.ajhg.2010.10.015</a> |
| Public note | Available from publisher's website |
No items available.