Mutations in IMPG1 cause vitelliform macular dystrophies. (Record no. 23048500)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02374 a2200757 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516165736.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201311s 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.2013.07.018 |
| 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 | Manes, Gaël |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20131105 |
| 245 00 - TITLE STATEMENT | |
| Title | Mutations in IMPG1 cause vitelliform macular dystrophies. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of human genetics |
| Date of publication, distribution, etc. | Sep 2013 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 571-8 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 | Adult |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Amino Acid Sequence |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Base Sequence |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chromosomes, Human |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Extracellular Matrix Proteins |
| General subdivision | chemistry |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Eye Proteins |
| General subdivision | chemistry |
| 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 | Fundus Oculi |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Predisposition to Disease |
| 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 | Inheritance Patterns |
| General subdivision | genetics |
| 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 | Molecular Sequence Data |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pedigree |
| 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 | Proteoglycans |
| General subdivision | chemistry |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Vitelliform Macular Dystrophy |
| 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 | Meunier, Isabelle |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Avila-Fernández, Almudena |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Banfi, Sandro |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Le Meur, Guylène |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zanlonghi, Xavier |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Corton, Marta |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Simonelli, Francesca |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Brabet, Philippe |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Labesse, Gilles |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Audo, Isabelle |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mohand-Said, Saddek |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zeitz, Christina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sahel, José-Alain |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Weber, Michel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dollfus, Hélène |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dhaenens, Claire-Marie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Allorge, Delphine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | De Baere, Elfride |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Koenekoop, Robert K |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kohl, Susanne |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cremers, Frans P M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hollyfield, Joe G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sénéchal, Audrey |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hebrard, Maxime |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bocquet, Béatrice |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ayuso García, Carmen |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hamel, Christian P |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of human genetics |
| Related parts | vol. 93 |
| -- | no. 3 |
| -- | p. 571-8 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ajhg.2013.07.018">https://doi.org/10.1016/j.ajhg.2013.07.018</a> |
| Public note | Available from publisher's website |
No items available.