Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness. (Record no. 22351993)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02076 a2200637 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516124938.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201303s 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.2012.10.023 |
| 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 | Zeitz, Christina |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20130312 |
| 245 00 - TITLE STATEMENT | |
| Title | Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of human genetics |
| Date of publication, distribution, etc. | Jan 2013 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 67-75 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exome |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Eye Diseases, Hereditary |
| 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 Diseases, X-Linked |
| 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 | Membrane Proteins |
| General subdivision | analysis |
| 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 | Mutation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Myopia |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Night Blindness |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Polymorphism, Genetic |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Retina |
| General subdivision | chemistry |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jacobson, Samuel G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hamel, Christian P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bujakowska, Kinga |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Neuillé, Marion |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Orhan, Elise |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zanlonghi, Xavier |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lancelot, Marie-Elise |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Michiels, Christelle |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schwartz, Sharon B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bocquet, Béatrice |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Antonio, Aline |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Audier, Claire |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Letexier, Mélanie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Saraiva, Jean-Paul |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Luu, Tien D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sennlaub, Florian |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nguyen, Hoan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Poch, Olivier |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dollfus, Hélène |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lecompte, Odile |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kohl, Susanne |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sahel, José-Alain |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bhattacharya, Shomi S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Audo, Isabelle |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of human genetics |
| Related parts | vol. 92 |
| -- | no. 1 |
| -- | p. 67-75 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ajhg.2012.10.023">https://doi.org/10.1016/j.ajhg.2012.10.023</a> |
| Public note | Available from publisher's website |
No items available.