Novel human CRYGD rare variant in a Brazilian family with congenital cataract. (Record no. 21108884)
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000 -LEADER | |
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fixed length control field | 01474 a2200493 4500 |
005 - DATE AND TIME OF LATEST TRANSACTION | |
control field | 20250516052846.0 |
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
fixed length control field | 201201s 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 | de Figueirêdo, Eugênio Santana |
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
Date of production, publication, distribution, manufacture, or copyright notice | 20120110 |
245 00 - TITLE STATEMENT | |
Title | Novel human CRYGD rare variant in a Brazilian family with congenital cataract. |
Medium | [electronic resource] |
260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
Name of publisher, distributor, etc. | Molecular vision |
Date of publication, distribution, etc. | 2011 |
300 ## - PHYSICAL DESCRIPTION | |
Extent | 2207-11 p. |
Other physical details | digital |
500 ## - GENERAL NOTE | |
General note | Publication Type: Journal Article |
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 | Base Sequence |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Brazil |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Case-Control Studies |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Cataract |
General subdivision | congenital |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Crystallins |
General subdivision | genetics |
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 | Genotype |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Heterozygote |
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 | Infant, Newborn |
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 | Molecular Sequence Data |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Mutation, Missense |
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 | Polymerase Chain Reaction |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Sequence Alignment |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | gamma-Crystallins |
General subdivision | genetics |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Giordano, Gabriel Gorgone |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Tavares, Anderson |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | da Silva, Márcio José |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | de Vasconcellos, José Paulo Cabral |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Arieta, Carlos Eduardo Leite |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | de Melo, Mônica Barbosa |
773 0# - HOST ITEM ENTRY | |
Title | Molecular vision |
Related parts | vol. 17 |
-- | p. 2207-11 |
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