A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis. (Record no. 12365536)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02032 a2200601 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250514060055.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200304s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1381-6810 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1076/opge.23.4.225.13879 |
| 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 | Gerber, Sylvie |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20030418 |
| 245 00 - TITLE STATEMENT | |
| Title | A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Ophthalmic genetics |
| Date of publication, distribution, etc. | Dec 2002 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 225-35 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 | Amino Acid Sequence |
| 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 | Arabs |
| General subdivision | genetics |
| 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 | Blindness |
| General subdivision | congenital |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chromosome Segregation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chromosomes, Human, Pair 1 |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Consanguinity |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA Mutational Analysis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Eye Proteins |
| 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 | Humans |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Israel |
| General subdivision | epidemiology |
| 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 | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Microsatellite Repeats |
| 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 | Nerve Tissue Proteins |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Optic Atrophy, Hereditary, Leber |
| General subdivision | ethnology |
| 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 | RNA, Messenger |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Reverse Transcriptase Polymerase Chain Reaction |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sequence Homology, Amino Acid |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Perrault, Isabelle |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hanein, Sylvain |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Shalev, Stavit |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zlotogora, Joel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Barbet, Fabienne |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ducroq, Dominique |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dufier, Jean |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Munnich, Arnold |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rozet, Jean |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kaplan, Josseline |
| 773 0# - HOST ITEM ENTRY | |
| Title | Ophthalmic genetics |
| Related parts | vol. 23 |
| -- | no. 4 |
| -- | p. 225-35 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1076/opge.23.4.225.13879">https://doi.org/10.1076/opge.23.4.225.13879</a> |
| Public note | Available from publisher's website |
No items available.