OPA1 R445H mutation in optic atrophy associated with sensorineural deafness. (Record no. 15868188)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02001 a2200661 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515003752.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200601s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 0364-5134 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1002/ana.20681 |
| 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 | Amati-Bonneau, Patrizia |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20060131 |
| 245 00 - TITLE STATEMENT | |
| Title | OPA1 R445H mutation in optic atrophy associated with sensorineural deafness. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Annals of neurology |
| Date of publication, distribution, etc. | Dec 2005 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 958-63 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 | Animals |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Audiometry |
| 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 | Cochlea |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cricetinae |
| 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 | Fibroblasts |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | GTP Phosphohydrolases |
| General subdivision | genetics |
| 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 | Hearing Loss, Sensorineural |
| General subdivision | genetics |
| 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 | Mitochondria |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Optic Atrophy, Autosomal Dominant |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Oxygen Consumption |
| 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 | Point Mutation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Skin |
| General subdivision | cytology |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Guichet, Agnès |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Olichon, Aurélien |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chevrollier, Arnaud |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Viala, Frédérique |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Miot, Stéphanie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ayuso, Carmen |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Odent, Sylvie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Arrouet, Catherine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Verny, Christophe |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Calmels, Marie-Noelle |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Simard, Gilles |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Belenguer, Pascale |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wang, Jing |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Puel, Jean-Luc |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hamel, Christian |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Malthièry, Yves |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bonneau, Dominique |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lenaers, Guy |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Reynier, Pascal |
| 773 0# - HOST ITEM ENTRY | |
| Title | Annals of neurology |
| Related parts | vol. 58 |
| -- | no. 6 |
| -- | p. 958-63 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/ana.20681">https://doi.org/10.1002/ana.20681</a> |
| Public note | Available from publisher's website |
No items available.