Homozygous FOXE3 mutations cause non-syndromic, bilateral, total sclerocornea, aphakia, microphthalmia and optic disc coloboma. (Record no. 20004619)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01772 a2200577 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515233346.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201011s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1090-0535 |
| 040 ## - CATALOGING SOURCE | |
| Original cataloging agency | NLM |
| Language of cataloging | eng |
| Transcribing agency | NLM |
| 100 1# - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Ali, Manir |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20101112 |
| 245 00 - TITLE STATEMENT | |
| Title | Homozygous FOXE3 mutations cause non-syndromic, bilateral, total sclerocornea, aphakia, microphthalmia and optic disc coloboma. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Molecular vision |
| Date of publication, distribution, etc. | Jun 2010 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1162-8 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 | Amino Acid Sequence |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Aphakia |
| General subdivision | complications |
| 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 | Coloboma |
| General subdivision | complications |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cornea |
| General subdivision | abnormalities |
| 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 | Family |
| 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 | Forkhead Transcription Factors |
| General subdivision | chemistry |
| 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 | Male |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mexico |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Microphthalmos |
| General subdivision | complications |
| 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 | Optic Disk |
| General subdivision | abnormalities |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pakistan |
| 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 | Syndrome |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Buentello-Volante, Beatriz |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | McKibbin, Martin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rocha-Medina, J Alberto |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fernandez-Fuentes, Narcis |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Koga-Nakamura, Wilson |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ashiq, Aruna |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Khan, Kamron |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Booth, Adam P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Williams, Grange |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Raashid, Yasmin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jafri, Hussain |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rice, Aine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Inglehearn, Chris F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zenteno, Juan Carlos |
| 773 0# - HOST ITEM ENTRY | |
| Title | Molecular vision |
| Related parts | vol. 16 |
| -- | p. 1162-8 |
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