Novel human CRYGD rare variant in a Brazilian family with congenital cataract. (Record no. 21108884)

MARC details
000 -LEADER
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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